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The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs.

作者信息

Lerer I, Cohen S, Chemke M, Sanilevich A, Rivlin J, Golan A, Yahav J, Friedman A, Abeliovich D

机构信息

Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.

出版信息

Hum Genet. 1990 Sep;85(4):416-7. doi: 10.1007/BF02428288.

DOI:10.1007/BF02428288
PMID:1976595
Abstract

We have analysed the distribution of the delta F508 mutation and the haplotypes of cystic fibrosis (CF) bearing chromosomes among the Israeli CF population. The population was classified according to its ethnic origin and included 3 groups, Ashkenazi Jews, Sephardic/Oriental Jews and Arabs. Haplotype B (KM19 allele 2, XV2c allele 1) was found to be the predominant haplotype in all groups but in each of them the haplotype distribution was different. The delta F508 mutation was present in all groups and accounts for 32% of the CF mutations. It was mainly associated with the B haplotype but only one third of the CF chromosomes with this haplotype carry the delta F508 mutation.

摘要

相似文献

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An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.一个携带有罕见色盲致病突变的古老常染色体单体型在阿拉伯穆斯林和东方犹太人中共享。
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Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.以色列不同犹太族群中囊性纤维化的发病率差异很大，且突变分布不同。
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Frequency of the cystic fibrosis mutation delta F508 in Algeria.
阿尔及利亚囊性纤维化突变ΔF508的频率。
Hum Genet. 1991 Oct;87(6):759. doi: 10.1007/BF00201746.
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Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.对五种突变进行筛查可检测出97%的囊性纤维化（CF）染色体，并预测在犹太阿什肯纳兹人群中携带者频率为1:29。
Am J Hum Genet. 1992 Nov;51(5):951-6.
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Cystic fibrosis mutations delta F508 and G542X in Jewish patients.犹太患者中的囊性纤维化突变ΔF508和G542X
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