메뉴 건너뛰기




Volumn 34, Issue 6, 2010, Pages 538-547

Molecular updating of β-thalassemia mutations in the upper Egyptian population

Author keywords

Thalassemia ( thal); Genetic drift; Mutation spectrum; Upper Egyptians

Indexed keywords

ADOLESCENT; ARTICLE; BETA THALASSEMIA; BETA THALASSEMIA MAJOR; CHILD; CODON; DNA SEQUENCE; EGYPT; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DRIFT; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIPLEX AMPLIFICATION REFRACTORY MUTATION SYSTEM POLYMERASE CHAIN REACTION; MULTIPLEX POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRESCHOOL CHILD; REVERSE DOT BLOT; SCHOOL CHILD;

EID: 79952143119     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.526440     Document Type: Article
Times cited : (23)

References (38)
  • 1
    • 0347125141 scopus 로고    scopus 로고
    • Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537-D541.
    • (2004) Nucleic Acids Res , vol.32 , Issue.DATABASE ISSUE
    • Patrinos, G.P.1    Giardine, B.2    Riemer, C.3
  • 2
    • 29744452838 scopus 로고    scopus 로고
    • The challenge of thalassemia for the developing countries
    • DOI 10.1196/annals.1345.002
    • Weatherall DJ. Keynote address: The challenge of thalassemia for the developing countries. Ann NY Acad Sci. 2005;1054:11-17. (Pubitemid 43031005)
    • (2005) Annals of the New York Academy of Sciences , vol.1054 , pp. 11-17
    • Weatherall, D.J.1
  • 5
    • 0031018840 scopus 로고    scopus 로고
    • Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population
    • el-Hashemite N, Petrou M, Khalifa AS, et al. Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population. Hum Genet. 1997;99(2):271-274.
    • (1997) Hum Genet , vol.99 , Issue.2 , pp. 271-274
    • El-Hashemite, N.1    Petrou, M.2    Khalifa, A.S.3
  • 6
    • 79952169482 scopus 로고    scopus 로고
    • Prenatal diagnosis of β-thalassemia via automated DHPLC analysis of fetal cells in maternal circulation
    • Shawky RM, Khalifa AS, Mokhtar GM, et al. Prenatal diagnosis of β-thalassemia via automated DHPLC analysis of fetal cells in maternal circulation, Egypt J Med Hum Genet. 2003;4(2):1-8.
    • (2003) Egypt J Med Hum Genet , vol.4 , Issue.2 , pp. 1-8
    • Shawky, R.M.1    Khalifa, A.S.2    Mokhtar, G.M.3
  • 7
    • 0027526217 scopus 로고
    • Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
    • Richards B, Skoletsky J, Shuber AP, et al. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet. 1993;2(2):159-163.
    • (1993) Hum Mol Genet , vol.2 , Issue.2 , pp. 159-163
    • Richards, B.1    Skoletsky, J.2    Shuber, A.P.3
  • 8
    • 11444264901 scopus 로고    scopus 로고
    • Frameshift deletion mechanisms in Egyptian Duchenne and becker muscular dystrophy families
    • Elhawary NA, Shawky RM, Hashem N. Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families. Mol Cells. 2004;18(2):141-149. (Pubitemid 40081206)
    • (2004) Molecules and Cells , vol.18 , Issue.2 , pp. 141-149
    • Elhawary, N.A.1    Shawky, R.M.2    Hashem, N.3
  • 9
    • 0026948189 scopus 로고
    • Detection of the most common mutations causing β-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS)
    • Fortina P, Dotti G, Conant R, et al. Detection of the most common mutations causing β-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS). PCR Methods Appl. 1992;2(2):163-166.
    • (1992) PCR Methods Appl , vol.2 , Issue.2 , pp. 163-166
    • Fortina, P.1    Dotti, G.2    Conant, R.3
  • 11
    • 79952153176 scopus 로고    scopus 로고
    • EDHS, Egypt Demographic Health Service
    • EDHS, Egypt Demographic Health Service (2008). http://www.measuredhs.com/ pubs/.
    • (2008)
  • 12
    • 44649131915 scopus 로고    scopus 로고
    • Characteristics of women in consanguineous marriages in Egypt, 1988-2000
    • Weinreb AA. Characteristics of women in consanguineous marriages in Egypt, 1988-2000. Eur J Population/Revue européenne de Démographie. 2008;24(2):185-210.
    • (2008) Eur J Population/Revue Européenne de Démographie , vol.24 , Issue.2 , pp. 185-210
    • Weinreb, A.A.1
  • 13
    • 0015099296 scopus 로고
    • Endogamy in Egyptian Nubia
    • Hussein FH. Endogamy in Egyptian Nubia. Biosoc Sci. 1971;3:351-357.
    • (1971) Biosoc Sci , vol.3 , pp. 351-357
    • Hussein, F.H.1
  • 15
    • 0027409287 scopus 로고
    • Molecular characterization of β-thalassemia in Egyptians
    • Hussein IR, Temtamy SA, el-Beshlawy A, et al. Molecular characterization of β-thalassemia in Egyptians. Hum Mutat. 1993;2(1):48-52.
    • (1993) Hum Mutat , vol.2 , Issue.1 , pp. 48-52
    • Hussein, I.R.1    Temtamy, S.A.2    El-Beshlawy, A.3
  • 18
    • 33847012590 scopus 로고    scopus 로고
    • Study of β-thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients
    • el-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A. Study of β-thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients. Hemoglobin. 2007;31(1):63-69.
    • (2007) Hemoglobin , vol.31 , Issue.1 , pp. 63-69
    • El-Gawhary, S.1    El-Shafie, S.2    Niazi, M.3    Aziz, M.4    El-Beshlawy, A.5
  • 19
    • 0033693877 scopus 로고    scopus 로고
    • β-Thalassemia mutations and haplotype analysis in Lebanon
    • Zahed L, Qatanani M, Nabulsi M, Taher A. β-Thalassemia mutations and haplotype analysis in Lebanon. Hemoglobin. 2000;24(4):269-276.
    • (2000) Hemoglobin , vol.24 , Issue.4 , pp. 269-276
    • Zahed, L.1    Qatanani, M.2    Nabulsi, M.3    Taher, A.4
  • 20
    • 17144412198 scopus 로고    scopus 로고
    • Hellenic national mutation database: A prototype database for mutations leading to inherited disorders in the hellenic population
    • DOI 10.1002/humu.20157
    • Patrinos GP, van Baal S, Petersen MB, Papadakis MN. Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population. Hum Mutat. 2005;25(4):327-333. (Pubitemid 40524659)
    • (2005) Human Mutation , vol.25 , Issue.4 , pp. 327-333
    • Patrinos, G.P.1    Van, B.S.2    Petersen, M.B.3    Papadakis, M.N.4
  • 22
    • 0242632723 scopus 로고    scopus 로고
    • The spectrum of β-thalassemia mutations in the Arab populations
    • DOI 10.1155/S1110724301000298, PII S1110724301000298
    • Zahed L. The Spectrum of β-thalassemia mutations in the Arab populations. J Biomed Biotechnol. 2001;1(3):129-132. (Pubitemid 46842819)
    • (2001) Journal of Biomedicine and Biotechnology , vol.2001 , Issue.3 , pp. 129-132
    • Zahed, L.1
  • 24
    • 0023753296 scopus 로고
    • Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA
    • Amselem S, Nunes V, Vidaud M, et al. Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA. Am J Hum Genet. 1988;43(1):95-100.
    • (1988) Am J Hum Genet , vol.43 , Issue.1 , pp. 95-100
    • Amselem, S.1    Nunes, V.2    Vidaud, M.3
  • 25
    • 0023849620 scopus 로고
    • β-Thalassemia mutations in the Portuguese population
    • Gomes MP, da Costa MG, Braga LB, et al. β-Thalassemia mutations in the Portuguese population. Hum Genet. 1988;78(1):13-15.
    • (1988) Hum Genet. , vol.78 , Issue.1 , pp. 13-15
    • Gomes, M.P.1    Da Costa, M.G.2    Braga, L.B.3
  • 26
    • 0028176093 scopus 로고
    • The spectrum of β-thalassemia mutations in the Oran region of Algeria
    • Bouhass R, Perrin P, Trabuchet G. The spectrum of β-thalassemia mutations in the Oran region of Algeria. Hemoglobin. 1994;18(3):211-219.
    • (1994) Hemoglobin , vol.18 , Issue.3 , pp. 211-219
    • Bouhass, R.1    Perrin, P.2    Trabuchet, G.3
  • 29
    • 0028962352 scopus 로고
    • Sequence analysis reveals a β-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel
    • Filon D, Faerman M, Smith P, Oppenheim A. Sequence analysis reveals a β-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel. Nat Genet. 1995;9(4):365-368.
    • (1995) Nat Genet , vol.9 , Issue.4 , pp. 365-368
    • Filon, D.1    Faerman, M.2    Smith, P.3    Oppenheim, A.4
  • 30
    • 0034896191 scopus 로고    scopus 로고
    • Spectrum of β-thalassemia in Jordan: Identification of two novel mutations
    • DOI 10.1002/ajh.1143
    • Sadiq MF, Eigel A, Horst J. Spectrum of β-thalassemia in Jordan: identification of two novel mutations. Am J Hematol. 2001;68(1):16-22. (Pubitemid 32738715)
    • (2001) American Journal of Hematology , vol.68 , Issue.1 , pp. 16-22
    • Sadiq, M.F.1    Eigel, A.2    Horst, J.3
  • 31
    • 0033232193 scopus 로고    scopus 로고
    • Appraisal of sickle-cell and thalassaemia genes in Saudi Arabia
    • el-Hazmi MA, Warsy AS. Appraisal of sickle-cell and thalassaemia genes in Saudi Arabia. East Mediterr Health J. 1999;5(6):1147-1153.
    • (1999) East Mediterr Health J , vol.5 , Issue.6 , pp. 1147-1153
    • El-Hazmi, M.A.1    Warsy, A.S.2
  • 34
    • 77953470474 scopus 로고    scopus 로고
    • β-Thalassaemia major in a Spanish patient due to a compound heterozygosity for CD39C>T/-28A>C
    • Gamarra S, Garcia-Effron G, Monteserin C, et al. β-Thalassaemia major in a Spanish patient due to a compound heterozygosity for CD39C>T/-28A>C. Adv Hematol 2009;2009:476342.
    • (2009) Adv Hematol , vol.2009 , pp. 476342
    • Gamarra, S.1    Garcia-Effron, G.2    Monteserin, C.3
  • 35
    • 0023177954 scopus 로고
    • The molecular basis of β-thalassemia in Lebanon: Application to prenatal diagnosis
    • Chehab FF, Der Kaloustian V, Khouri FP, Deeb SS, Kan YW. The molecular basis of β-thalassemia in Lebanon: application to prenatal diagnosis. Blood. 1987;69(4):1141-1145. (Pubitemid 17080937)
    • (1987) Blood , vol.69 , Issue.4 , pp. 1141-1145
    • Chehab, F.F.1    Der, K.V.2    Khouri, F.P.3
  • 37
    • 70449723370 scopus 로고    scopus 로고
    • Incidence of haemoglobinopathies in various populations - The impact of immigration
    • Henderson S, Timbs A, McCarthy J, et al. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009;42(18):1745-1756.
    • (2009) Clin Biochem , vol.42 , Issue.18 , pp. 1745-1756
    • Henderson, S.1    Timbs, A.2    McCarthy, J.3
  • 38
    • 0029044446 scopus 로고
    • Spectrum of β-thalassaemia mutations in the population of Saudi Arabia
    • Hasounah FH, Sejeny SA, Omer JA, Old JM, Oliver RW. Spectrum of β-thalassaemia mutations in the population of Saudi Arabia. Hum Hered. 1995;45(is4):231-234.
    • (1995) Hum Hered , vol.45 , Issue.IS4 , pp. 231-234
    • Hasounah, F.H.1    Sejeny, S.A.2    Omer, J.A.3    Old, J.M.4    Oliver, R.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.