High frequency of a common bloom syndrome Ashkenazi mutation among Jews of polish origin

Genetic Testing

Volumn 2, Issue 4, 1998, Pages 293-296

  Shahrabani Gargir, Limor ^a   Shomrat, Ruth ^a   Yaron, Yuval ^a,c   Orr Urtreger, Avi ^a   Groden, Joanna ^b   Legum, Cyril ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BLOOM SYNDROME PROTEIN; HELICASE;

ARTICLE; BLOOM SYNDROME; ETHNOLOGY; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HETEROZYGOTE DETECTION; HUMAN; INCIDENCE; ISRAEL; JEW; MALE; NUCLEOTIDE SEQUENCE; POLAND; POLYMERASE CHAIN REACTION; RECESSIVE GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADENOSINE TRIPHOSPHATASES; BLOOM SYNDROME; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; ISRAEL; JEWS; MALE; POLAND; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE DELETION;

EID: 0032242135     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1998.2.293     Document Type: Article

References (25)

1. ICH, D., LAVON, I.P., LERER, I., COHEN, T., SPRINGER, C., AVITAL, A., and CUTTING, G.R. (1992). Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet. 51, 951-956.
2. BEAUDET, A.L., and KAZAZIAN, H.H., JR. (1990). Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene. (Special Report). N. Engl. J. Med. 323, 70-71.
3. BLOOM, D. (1954). Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am. J. Dis. Child. 88, 754.
4. CHAGANTI, R.S.K., SCHONBERG, S., and GERMAN, J. (1974). A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc. Nat. Acad. Sci. USA 71, 4508-4512.
5. CIOCCI, S., PROYTCHEVA, M., YE, T., and ELLIS, N.A. (1997). Evidence that founder effect of the Ashkenazi mutation predates Jewish migration to Eastern Europe. Am. J. Hum. Genet. 61, Abstract 1149.
6. ELLIS, N.A., and GERMAN, J. (1996). Molecular genetics of Bloom's syndrome. Hum. Molec. Genet. 5, 1457-1463.
7. ELLIS, N.A., GRODEN, J., YE, T.-Z., STRAUGHEN, J., LENNON, D.J., CIOCCI, S., PROYTCHEVA, M., and GERMAN, J. (1995). The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83, 655-666.
8. ELLIS, N.A., ROE, A.M., KOZLOSKI, J., PROYTCHEVA, M., FALK, C., and GERMAN, J. (1994) Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. Am. J. Hum. Genet. 55, 453-460.
9. ELLIS, N.A., ROE, A.M., OTTERUD, B., LEPPERT, M., and GERMAN, J. (1992). Homozygosity mapping of the Bloom's syndrome locus. (Abstract) Am. J. Hum. Genet. 51, (Suppl.): A187.
10. ELPELEG, O.N., ANIKSTER, Y., BARASH, V., BRANSKI, D., and SHAAG, A. (1994). The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. Am. J. Hum. Genet. 55, 287-288.
11. GERMAN, J. (1964). Cytological evidence for crossing over in vitro in human lymphoid cells. Science 144, 298-301.
12. GERMAN, J., ARCHIBALD, R., and BLOOM, D. (1965). Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148, 506-507.
13. GERMAN, J., BLOOM, D., PASSARGE, E., FRIED, K., GOODMAN, R.M., KATZENELLENBOGEN, I., LARSON, Z., LEGUM, C., LEVINE, S., and WAHRMAN, J. (1977). Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am. J. Hum. Genet. 29, 553-562.
14. GERMAN, J. (1978). Bloom's syndrome. VIII. Review of clinical and genetic aspects. In Genetic Diseases Among Ashkenazi Jews. (Raven Press, New York) pp. 121-139.
15. GERMAN, J., and PASSARGE, E. (1989). Bloom's syndrome. XII. Report from the Registry for 1987. Clin. Genet. 35, 57-69.
16. GERMAN, J. (1993). Bloom syndrome: A mendelian prototype of somatic mutational disease. Medicine 72, 393-406.
17. GERMAN, J., ROE, A.M., LEPPERT, M.F., and ELLIS, N.A. (1994). Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc. Nat. Acad. Sci. USA 91, 6669-6673.
18. KABACK, M.M., RIMOIN, D.L., and O'BRIEN, J.S. (1977). Tay-Sachs Disease: Screening and Prevention. (Alan R. Liss, New York).
19. KAUL, R., GAO, G.P., ALOYA, M., BALAMURUGAN, K., PETROSKY, A., MICHALS, K., and MATALON, R. (1994). Canavan Disease: Mutations among Jewish and Non-Jewish Patients. Am. J. Hum. Genet. 55, 34-41.
20. LEGUM, C., FURMAN, N., and DIAMANT, S. (1991). Bloom's syndrome in an Iranian Jewish male. Ann. Genet. 34, 198-200.
21. SAWITSKY, A., BLOOM, D., and GERMAN, J. (1966). Chromosomal breakage and Acute Leukemia in Congenital Telangiectatic Erythema and stund growth. Ann. Int. Med. 65, 487-495.
22. STRAUGHEN, J., CIOCCI, S., YE, T.-Z., LENNON, D.N., PROYTCHEVA, M., ALHADEFF, B., GOODFELLOW, P., GERMAN, J., ELLIS, N.A., and GRODEN, J. (1996). Physical mapping of the Bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Genomics 35, 118-128.
23. STRAUGHEN, J.E., JOHNSON, J., McLAREN, D., PROYTCHEVA, M., ELLIS, N., GERMAN, J., and GRODEN, J. (1998). A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. Hum Mutat. 11, 175-178.
24. TSUI, L.C. (1992). The spectrum of cyctic fibrosis mutation. Trends Genet. 8, 392-398.
25. TSUJI, S., MARTIN, B.M., BARRANGER, J.A., STUBBLEFIELD, B.K., LAMARCA, M.E., and GINNS, E.I. (1988). Genetic heterogeneity in Type I Gaucher's disease: multiple genotype in Ashkenazi and non-Ashkenazi individuals. Proc. Natl. Acad. Sci. USA 85, 2349-2352.