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Volumn 2, Issue 11, 2001, Pages 891-898

A genetic profile of contemporary Jewish populations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENE LINKAGE DISEQUILIBRIUM; GENETIC DISORDER; GENETIC SCREENING; GENETICS; HUMAN; JEW; MUTATION; POPULATION GENETICS;

EID: 0035514049     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/35098506     Document Type: Review
Times cited : (153)

References (100)
  • 5
  • 6
    • 0004404776 scopus 로고
    • The Jewish Publication Society, Philadelphia, Pennsylvania
    • Stillman, N. The Jews of Arab Lands (The Jewish Publication Society, Philadelphia, Pennsylvania, 1991).
    • (1991) The Jews of Arab Lands
    • Stillman, N.1
  • 7
    • 0346692306 scopus 로고
    • Jewish Publication Society of America, Philadelphia, Pennsylvania
    • Weinryb, B. A History of the Jews in Poland (Jewish Publication Society of America, Philadelphia, Pennsylvania, 1973).
    • (1973) A History of the Jews in Poland
    • Weinryb, B.1
  • 10
    • 12944286501 scopus 로고    scopus 로고
    • Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes
    • Hammer, M. F. et al. Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc. Natl Acad. Sci. USA 97, 6769-6774 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 6769-6774
    • Hammer, M.F.1
  • 11
    • 0031011983 scopus 로고    scopus 로고
    • Y chromosomes of Jewish priests
    • Skorecki, K. et al. Y chromosomes of Jewish priests. Nature 385, 32 (1997).
    • (1997) Nature , vol.385 , pp. 32
    • Skorecki, K.1
  • 12
    • 0032500035 scopus 로고    scopus 로고
    • Origins of Old Testament priests
    • Thomas, M. G. et al. Origins of Old Testament priests. Nature 394, 138-140 (1998).
    • (1998) Nature , vol.394 , pp. 138-140
    • Thomas, M.G.1
  • 13
    • 0033912631 scopus 로고    scopus 로고
    • Y chromosomes traveling south: The Cohen modal haplotype and the origins of the Lemba -the "Black Jews of Southern Africa"
    • Thomas, M. G. et al. Y chromosomes traveling south: the Cohen modal haplotype and the origins of the Lemba -the "Black Jews of Southern Africa". Am. J. Hum. Genet. 66, 674-686 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 674-686
    • Thomas, M.G.1
  • 14
    • 0018971433 scopus 로고
    • Genetic studies on Cochin Jews in Israel. 1. Population data, blood groups, isoenzymes, and HLA determinants
    • Cohen, T. et al. Genetic studies on Cochin Jews in Israel. 1. Population data, blood groups, isoenzymes, and HLA determinants. Am. J. Med. Genet. 6, 61-73 (1980).
    • (1980) Am. J. Med. Genet. , vol.6 , pp. 61-73
    • Cohen, T.1
  • 15
    • 0018934829 scopus 로고
    • Genetic studies on Cochin Jews in Israel. 2. Gm and Inv data - Polymorphism for Gm3 and for Gm1, 17, 21 without Gm(26)
    • Steinberg, A. G. et al. Genetic studies on Cochin Jews in Israel. 2. Gm and Inv data - polymorphism for Gm3 and for Gm1, 17, 21 without Gm(26). Am. J. Med. Genet. 6, 75-81 (1980).
    • (1980) Am. J. Med. Genet. , vol.6 , pp. 75-81
    • Steinberg, A.G.1
  • 17
    • 0029248868 scopus 로고
    • Jewish diseases and origins
    • Motulsky, A. G. Jewish diseases and origins. Nature Genet. 9, 99-101 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 99-101
    • Motulsky, A.G.1
  • 18
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell, R. J. et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339, 1500-1505 (1998).
    • (1998) N. Engl. J. Med. , vol.339 , pp. 1500-1505
    • Morell, R.J.1
  • 19
    • 0028175486 scopus 로고
    • Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events
    • Filon, D. et al. Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events. Am. J. Hum. Genet. 54, 836-843 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 836-843
    • Filon, D.1
  • 20
    • 0033792461 scopus 로고    scopus 로고
    • Diversity of α-globin mutations and clinical presentation of α-thalassemia in Israel
    • Oron-Kami, V. et al. Diversity of α-globin mutations and clinical presentation of α-thalassemia in Israel. Am. J. Hematol. 65, 196-203 (2000).
    • (2000) Am. J. Hematol. , vol.65 , pp. 196-203
    • Oron-Kami, V.1
  • 21
    • 0029019611 scopus 로고
    • Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
    • Kerem, E. et al. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum. Genet. 96, 193-197 (1995).
    • (1995) Hum. Genet. , vol.96 , pp. 193-197
    • Kerem, E.1
  • 22
    • 0033305729 scopus 로고    scopus 로고
    • Mendelian diseases among Roman Jews: Implications for the origins of disease alleles
    • Oddoux, C. et al. Mendelian diseases among Roman Jews: implications for the origins of disease alleles. J. Clin. Endocrinol. Metab. 84, 4405-4409 (1999).
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 4405-4409
    • Oddoux, C.1
  • 23
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante, L. et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6, 1605-1609 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1605-1609
    • Zelante, L.1
  • 24
    • 0031079750 scopus 로고    scopus 로고
    • Activated protein C resistance caused by a common factor V mutation has a single origin
    • Zoller, B., Hillarp, A. & Dahlback, B. Activated protein C resistance caused by a common factor V mutation has a single origin. Thromb. Res. 85, 237-243 (1997).
    • (1997) Thromb. Res. , vol.85 , pp. 237-243
    • Zoller, B.1    Hillarp, A.2    Dahlback, B.3
  • 25
    • 0022894810 scopus 로고
    • Genetic analysis of cystic fibrosis using linked DMA markers
    • Tsui, L. C., Buetow, K. & Buchwald, M. Genetic analysis of cystic fibrosis using linked DMA markers. Am. J. Hum. Genet. 39, 720-728 (1986).
    • (1986) Am. J. Hum. Genet. , vol.39 , pp. 720-728
    • Tsui, L.C.1    Buetow, K.2    Buchwald, M.3
  • 26
    • 19244362693 scopus 로고    scopus 로고
    • Localization of the famitel Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. the French FMF Consortium
    • Localization of the famitel Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium. Am. J. Hum. Genet. 59, 603-612 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 603-612
  • 27
    • 0028899613 scopus 로고
    • One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pod of Jews
    • Shpilberg, O. et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pod of Jews. Blood 85, 429-432 (1995).
    • (1995) Blood , vol.85 , pp. 429-432
    • Shpilberg, O.1
  • 28
    • 0033358085 scopus 로고    scopus 로고
    • Age estimates of two common mutations causing factor XI deficiency: Recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews
    • Goldstein, D. B. et al. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 64, 1071-1075 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1071-1075
    • Goldstein, D.B.1
  • 29
    • 7144251883 scopus 로고    scopus 로고
    • The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim
    • Bar-Sade, R. B. et al. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum. Mol. Genet. 7, 801-805 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 801-805
    • Bar-Sade, R.B.1
  • 30
    • 0032478548 scopus 로고    scopus 로고
    • Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
    • Nichols, W. C. et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 93, 61-70 (1998).
    • (1998) Cell , vol.93 , pp. 61-70
    • Nichols, W.C.1
  • 31
    • 0034569341 scopus 로고    scopus 로고
    • Genetic disease since 1945
    • Lindee, M. S. Genetic disease since 1945. Nature Rev. Genet. 1, 236-241 (2000).
    • (2000) Nature Rev. Genet. , vol.1 , pp. 236-241
    • Lindee, M.S.1
  • 32
    • 0033910320 scopus 로고    scopus 로고
    • Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid β-glucosidase mutations
    • Diaz, G. A. et al. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid β-glucosidase mutations. Am. J. Hum. Genet, 66, 1821-1832 (2000).
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 1821-1832
    • Diaz, G.A.1
  • 33
    • 0035007057 scopus 로고    scopus 로고
    • Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews
    • Durst, R. et al. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 68, 1172-1188 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1172-1188
    • Durst, R.1
  • 34
    • 0027429393 scopus 로고
    • The differences among Jewish communities - Maternal and paternal contributions
    • Ritte, U., Neufeld, E., Broit, M., Shavit, D. & Motro, U. The differences among Jewish communities - maternal and paternal contributions. J. Mol. Evol. 37, 435-440 (1993).
    • (1993) J. Mol. Evol. , vol.37 , pp. 435-440
    • Ritte, U.1    Neufeld, E.2    Broit, M.3    Shavit, D.4    Motro, U.5
  • 35
    • 0034649441 scopus 로고    scopus 로고
    • Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene
    • Blumen, S. C. et al. Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. Neurology 55, 1267-1270 (2000).
    • (2000) Neurology , vol.55 , pp. 1267-1270
    • Blumen, S.C.1
  • 36
    • 0342505312 scopus 로고    scopus 로고
    • Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease
    • Lee, H. S. et al. Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. Am. J. Hum. Genet. 64, 1063-1070 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1063-1070
    • Lee, H.S.1
  • 37
    • 0032421792 scopus 로고    scopus 로고
    • Identification of the 185delAG BRCA1 mutation in a Spanish gypsy population
    • Diez, O. et al. Identification of the 185delAG BRCA1 mutation in a Spanish gypsy population. Hum. Genet. 103, 707-708 (1998).
    • (1998) Hum. Genet. , vol.103 , pp. 707-708
    • Diez, O.1
  • 38
    • 0032471419 scopus 로고    scopus 로고
    • The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry
    • Ellis, N. A. et al. The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am. J. Hum. Genet. 63, 1685-1693 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1685-1693
    • Ellis, N.A.1
  • 39
    • 0027931590 scopus 로고
    • Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorean E180 splice mutation in an oriental Jewish patient
    • Berg, M. A. et al. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180 splice mutation in an oriental Jewish patient. Acta Paediatr. Suppl. 399, 112-114 (1994).
    • (1994) Acta Paediatr. Suppl. , vol.399 , pp. 112-114
    • Berg, M.A.1
  • 40
    • 0007197978 scopus 로고
    • Jewish Publication Society of America, Philadelphia, Pennsylvania
    • Baer, Y. A History of the Jews in Christian Spain (Jewish Publication Society of America, Philadelphia, Pennsylvania. 1978).
    • (1978) A History of the Jews in Christian Spain
    • Baer, Y.1
  • 41
    • 0028011885 scopus 로고
    • High frequencies of human genetic diseases: Founder effect with genetic drift or selection?
    • Zlotogora, J. High frequencies of human genetic diseases: founder effect with genetic drift or selection? Am. J. Med. Genet. 49, 10-13 (1994).
    • (1994) Am. J. Med. Genet. , vol.49 , pp. 10-13
    • Zlotogora, J.1
  • 42
    • 0025957267 scopus 로고
    • Evolution of a genetic disease in an ethnic isolate: β-thalassemia in the Jews of Kurdistan
    • Rund, D. et al. Evolution of a genetic disease in an ethnic isolate: β-thalassemia in the Jews of Kurdistan. Proc. Natl Acad. Sci. USA 88, 310-314 (1991).
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 310-314
    • Rund, D.1
  • 43
    • 0028878728 scopus 로고
    • The genetic advantage hypothesis in cystic fibrosis heterozygotes: A murine study
    • Cuthbert, A. W., Halstead, J., Ratcliff, R., Colledge, W. H. & Evans, M. J. The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study. J. Physiol. 482, 449-454 (1995).
    • (1995) J. Physiol. , vol.482 , pp. 449-454
    • Cuthbert, A.W.1    Halstead, J.2    Ratcliff, R.3    Colledge, W.H.4    Evans, M.J.5
  • 44
    • 0032492855 scopus 로고    scopus 로고
    • Salmonella typhi uses CFTR to enter intestinal epithelial cells
    • Pier, G. B. et al. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393, 79-82 (1998).
    • (1998) Nature , vol.393 , pp. 79-82
    • Pier, G.B.1
  • 45
    • 17344372255 scopus 로고    scopus 로고
    • Dating the origin of the CCR5-A32 AIDS-resistance allele by the coalescence of haplotypes
    • Stephens, J. C. et al. Dating the origin of the CCR5-A32 AIDS-resistance allele by the coalescence of haplotypes. Am. J. Hum. Genet. 62, 1507-1515 (1998).
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1507-1515
    • Stephens, J.C.1
  • 46
    • 0034434840 scopus 로고    scopus 로고
    • Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model
    • Kaback, M. M. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur. J. Pediatr. 159 (Suppl. 3). S192-S195 (2000).
    • (2000) Eur. J. Pediatr. , vol.159 , Issue.3 SUPPL.
    • Kaback, M.M.1
  • 47
    • 0033606777 scopus 로고    scopus 로고
    • Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis
    • Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch. Intern. Med. 159, 1529-1539 (1999).
    • (1999) Arch. Intern. Med. , vol.159 , pp. 1529-1539
  • 48
    • 0141732470 scopus 로고    scopus 로고
    • Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease
    • Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. J. Am. Med. Assoc. 275, 548-553 (1996).
    • (1996) J. Am. Med. Assoc. , vol.275 , pp. 548-553
  • 49
    • 0032912853 scopus 로고    scopus 로고
    • Screening for Canavan disease. Number 212, November 1998
    • Committee on Genetics. American College of Obstetricians and Gynecologists. ACOG committee opinion. Screening for Canavan disease. Number 212, November 1998. Int. J. Gynaecol. Obstet. 65, 91-92 (1999).
    • (1999) Int. J. Gynaecol. Obstet. , vol.65 , pp. 91-92
  • 50
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hastbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211 (1992).
    • (1992) Nature Genet. , vol.2 , pp. 204-211
    • Hastbacka, J.1
  • 51
    • 0029814277 scopus 로고    scopus 로고
    • Molecular genetics of Bloom's syndrome
    • Bus, N. A. & German, J. Molecular genetics of Bloom's syndrome. Hum. Mol. Genet. 5, 1457-1463 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1457-1463
    • Bus, N.A.1    German, J.2
  • 52
    • 0033365390 scopus 로고    scopus 로고
    • Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31
    • Blumenfeld, A. et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am. J. Hum. Genet. 64, 1110-1118 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1110-1118
    • Blumenfeld, A.1
  • 53
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch, N. J. Searching for genetic determinants in the new millennium. Nature 405, 847-856 (2000).
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 55
    • 0033646621 scopus 로고    scopus 로고
    • The extent of linkage disequilibrium in four populations with distinct demographic histories
    • Dunning, A. M. et al. The extent of linkage disequilibrium in four populations with distinct demographic histories. Am. J. Hum. Genet. 67, 1544-1554 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1544-1554
    • Dunning, A.M.1
  • 56
    • 0033039497 scopus 로고    scopus 로고
    • Prospects for whole-genome linkage disequilibrium mapping of common disease genes
    • Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139-144 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 139-144
    • Kruglyak, L.1
  • 57
    • 0033573934 scopus 로고    scopus 로고
    • Genetic isolates: Separate but equal?
    • Kruglyak, L. Genetic isolates: separate but equal? Proc. Natl Acad. Sci. USA 96, 1170-1172 (1999).
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 1170-1172
    • Kruglyak, L.1
  • 58
    • 0035133792 scopus 로고    scopus 로고
    • Patterns of inter- And intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
    • Kalaydjieva, L. et al. Patterns of inter-and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur. J. Hum. Genet. 9, 97-104 (2001).
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 97-104
    • Kalaydjieva, L.1
  • 59
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish disease heritage. Hum. Mol. Genet. 8, 1913-1923 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1913-1923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 61
    • 0030857217 scopus 로고    scopus 로고
    • The molecular basis of South African genetic porphyria established at last!
    • Jenkins, T. The molecular basis of South African genetic porphyria established at last! S. Afr. Med. J. 87, 733-735 (1997).
    • (1997) S. Afr. Med. J. , vol.87 , pp. 733-735
    • Jenkins, T.1
  • 62
    • 16944365091 scopus 로고    scopus 로고
    • A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
    • Peelen, T. et al. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am. J. Hum. Genet. 60, 1041-1049 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1041-1049
    • Peelen, T.1
  • 63
    • 19144364122 scopus 로고    scopus 로고
    • Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden
    • Jonannsson, O. et al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am. J. Hum. Genet. 58, 441-450 (1996).
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 441-450
    • Jonannsson, O.1
  • 64
    • 0032231382 scopus 로고    scopus 로고
    • Founder BFCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families
    • Tonin, P. N. et al. Founder BFCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am. J. Hum. Genet. 63, 1341-1351 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1341-1351
    • Tonin, P.N.1
  • 65
    • 0035320886 scopus 로고    scopus 로고
    • Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
    • Weatherall, D. J. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Rev. Genet. 2, 245-255 (2001).
    • (2001) Nature Rev. Genet. , vol.2 , pp. 245-255
    • Weatherall, D.J.1
  • 67
    • 0347953210 scopus 로고    scopus 로고
    • American Jewish Committee, Philadelphia, Pennsylvani
    • American Jewish Yearbook (American Jewish Committee, Philadelphia, Pennsylvani, 2000).
    • (2000) American Jewish Yearbook
  • 68
    • 0027613059 scopus 로고
    • Mitochondrial DNA affinity of several Jewish communities
    • Ritte, U. et al. Mitochondrial DNA affinity of several Jewish communities. Hum. Biol. 65, 359-385 (1993).
    • (1993) Hum. Biol. , vol.65 , pp. 359-385
    • Ritte, U.1
  • 69
    • 0027294587 scopus 로고
    • The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity
    • Santachiara Benerecetti, A. S. et al. The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity. Annu. Hum. Genet. 57, 55-64 (1993).
    • (1993) Annu. Hum. Genet. , vol.57 , pp. 55-64
    • Santachiara Benerecetti, A.S.1
  • 70
    • 10544235695 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: Founder effect among north African Jews
    • Gilad, S. et al. Ataxia-telangiectasia: founder effect among north African Jews. Hum. Mol. Genet. 5, 2033-2037 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 2033-2037
    • Gilad, S.1
  • 71
    • 10344265065 scopus 로고    scopus 로고
    • Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews
    • Tamary, H. et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb. Haemost 76, 283-291 (1996).
    • (1996) Thromb. Haemost , vol.76 , pp. 283-291
    • Tamary, H.1
  • 72
    • 18244429610 scopus 로고    scopus 로고
    • Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    • Aksentijevich, I. et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 64, 949-962 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 949-962
    • Aksentijevich, I.1
  • 73
    • 0028881717 scopus 로고
    • Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population
    • Kronn, D., Oddoux, C., Phillips, J. & Ostrer, H. Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am. J. Hum. Genet. 57, 1250-1252 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1250-1252
    • Kronn, D.1    Oddoux, C.2    Phillips, J.3    Ostrer, H.4
  • 74
    • 0023920360 scopus 로고
    • A segregation and linkage study of classical and nonclassical 21 -hydroxylase deficiency
    • Sherman, S. L. Aston, C. E., Morton, N. E., Speiser, P. W. & New, M. I. A segregation and linkage study of classical and nonclassical 21 -hydroxylase deficiency. Am. J. Hum. Genet. 42, 830-838 (1988).
    • (1988) Am. J. Hum. Genet. , vol.42 , pp. 830-838
    • Sherman, S.L.1    Aston, C.E.2    Morton, N.E.3    Speiser, P.W.4    New, M.I.5
  • 75
    • 0035978533 scopus 로고    scopus 로고
    • A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    • Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
    • (2001) Nature , vol.411 , pp. 603-606
    • Ogura, Y.1
  • 76
    • 16044366988 scopus 로고    scopus 로고
    • The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
    • Oddoux, C. et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genet. 14, 188-190 (1996).
    • (1996) Nature Genet. , vol.14 , pp. 188-190
    • Oddoux, C.1
  • 77
    • 16944365288 scopus 로고    scopus 로고
    • Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
    • Laken, S. J. et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet. 17, 79-83 (1997).
    • (1997) Nature Genet. , vol.17 , pp. 79-83
    • Laken, S.J.1
  • 78
    • 0035097484 scopus 로고    scopus 로고
    • Familial dysautonomia is caused by mutations of the IKAP gene
    • Anderson, S. L. et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am. J. Hum. Genet. 68, 753-758 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 753-758
    • Anderson, S.L.1
  • 79
    • 0035089807 scopus 로고    scopus 로고
    • Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    • Slaugenhaupt, S. A. et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Hum. Genet. 68, 598-605 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 598-605
    • Slaugenhaupt, S.A.1
  • 80
    • 0029658241 scopus 로고    scopus 로고
    • Mutations in the sulonyturea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
    • Nestorowicz, A. et al. Mutations in the sulonyturea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 5, 1813-1822 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1813-1822
    • Nestorowicz, A.1
  • 81
    • 0028858123 scopus 로고
    • Carrier frequency of the IVS4+4 A→T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population
    • Verlander, P. C. et al. Carrier frequency of the IVS4+4 A→T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86, 4034-4038 (1995).
    • (1995) Blood , vol.86 , pp. 4034-4038
    • Verlander, P.C.1
  • 82
    • 0030828883 scopus 로고    scopus 로고
    • Glycogen storage disease type 1 a in Israel: Biochemical, clinical, and mutational studies
    • Parvari, R. et al. Glycogen storage disease type 1 a in Israel: biochemical, clinical, and mutational studies. Am. J. Med. Genet. 72, 286-290 (1997).
    • (1997) Am. J. Med. Genet. , vol.72 , pp. 286-290
    • Parvari, R.1
  • 83
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch, N. et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet 9, 152-159 (1995).
    • (1995) Nature Genet , vol.9 , pp. 152-159
    • Risch, N.1
  • 84
    • 0033555479 scopus 로고    scopus 로고
    • Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews
    • Shaag, A. et al. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am. J. Med. Genet. 82, 177-182 (1999).
    • (1999) Am. J. Med. Genet. , vol.82 , pp. 177-182
    • Shaag, A.1
  • 85
    • 0035032399 scopus 로고    scopus 로고
    • Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
    • Bargal, R. et al. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum. Mutat. 17, 397-402 (2001).
    • (2001) Hum. Mutat. , vol.17 , pp. 397-402
    • Bargal, R.1
  • 86
    • 0031291717 scopus 로고    scopus 로고
    • Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing
    • Schuchman, E. H. & Miranda, S. R. Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet. Test. 1, 13-19 (1997).
    • (1997) Genet. Test. , vol.1 , pp. 13-19
    • Schuchman, E.H.1    Miranda, S.R.2
  • 87
    • 0035866030 scopus 로고    scopus 로고
    • Tay-Sachs screening in the Jewish Ashkenazi population: DMA testing is the preferred procedure
    • Bach, G., Tomczak, J., Risch, N. & Ekstein, J. Tay-Sachs screening in the Jewish Ashkenazi population: DMA testing is the preferred procedure. Am. J. Med. Genet. 99, 70-75 (2001).
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 70-75
    • Bach, G.1    Tomczak, J.2    Risch, N.3    Ekstein, J.4
  • 89
    • 0029836686 scopus 로고    scopus 로고
    • Genetic homogeneity of autoimmune polyglandular disease type I
    • Bjorses, P. et al. Genetic homogeneity of autoimmune polyglandular disease type I. Am. J. Hum. Genet. 59, 879-886 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 879-886
    • Bjorses, P.1
  • 90
    • 0027521102 scopus 로고
    • Mutations in human 11 β-hydroxylase genes: 11 β-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran
    • Rosler, A. & White, P. C. Mutations in human 11 β-hydroxylase genes: 11 β-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran. J. Steroid Biochem. Mol. Biol. 45, 99-106 (1993).
    • (1993) J. Steroid Biochem. Mol. Biol. , vol.45 , pp. 99-106
    • Rosler, A.1    White, P.C.2
  • 91
    • 0031793252 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes
    • Menold, M. M. et al. Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. Hum. Hered. 48, 325-332 (1998).
    • (1998) Hum. Hered. , vol.48 , pp. 325-332
    • Menold, M.M.1
  • 93
    • 0030915793 scopus 로고    scopus 로고
    • Glanzmannthrombastheniacaused by an 11.2-kb deletion in the glycoprotein IIIa (β3) is a second mutation in Iraqi Jews that stemmed from a distinct founder
    • Rosenberg, N. et al. Glanzmannthrombastheniacaused by an 11.2-kb deletion in the glycoprotein IIIa (β3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. Blood 89, 3654-3662 (1997).
    • (1997) Blood , vol.89 , pp. 3654-3662
    • Rosenberg, N.1
  • 94
    • 0032821201 scopus 로고    scopus 로고
    • Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium
    • Feliubadalo, L. et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium. Nature Genet. 23, 52-57 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 52-57
    • Feliubadalo, L.1
  • 95
    • 0027208973 scopus 로고
    • Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin
    • Leitersdorf, E. et al. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J. Clin. Invest. 91, 2488-2496 (1993).
    • (1993) J. Clin. Invest. , vol.91 , pp. 2488-2496
    • Leitersdorf, E.1
  • 96
    • 0035313970 scopus 로고    scopus 로고
    • High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry
    • Halle, D. et al. High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry. Am. J. Med. Genet. 99, 325-327 (2001).
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 325-327
    • Halle, D.1
  • 97
    • 0030689829 scopus 로고    scopus 로고
    • A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIa in a population of North African Jewish patients
    • Parvari, R. et al. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur. J. Hum. Genet. 5, 266-270 (1997).
    • (1997) Eur. J. Hum. Genet. , vol.5 , pp. 266-270
    • Parvari, R.1
  • 98
    • 0030765489 scopus 로고    scopus 로고
    • Tay-Sachs disease and HEXA mutations among Moroccan Jews
    • Kaufman, M. et al. Tay-Sachs disease and HEXA mutations among Moroccan Jews. Hum. Mutat. 10, 295-300 (1997).
    • (1997) Hum. Mutat. , vol.10 , pp. 295-300
    • Kaufman, M.1
  • 99
    • 0034709195 scopus 로고    scopus 로고
    • Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
    • McNally, E. M. et al. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am. J. Med. Genet. 91, 305-312 (2000).
    • (2000) Am. J. Med. Genet. , vol.91 , pp. 305-312
    • McNally, E.M.1
  • 100
    • 0025326408 scopus 로고
    • A single origin of phenylketonuria in Yemenite Jews
    • Avigad, S. et al. A single origin of phenylketonuria in Yemenite Jews. Nature 344, 168-170 (1990).
    • (1990) Nature , vol.344 , pp. 168-170
    • Avigad, S.1


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