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以色列的囊性纤维化:临床与遗传学方面

Cystic fibrosis in Israel: clinical and genetic aspects.

作者信息

Katznelson D, Ben-Yishay M

出版信息

Isr J Med Sci. 1978 Feb;14(2):204-11.

PMID:649347
Abstract

A total of 140 cases of cystic fibrosis in 110 families was identified in Israel during the years 1946--75, and there was reason to suspect inadequate ascertainment. Cystic fibrosis is frequent among the Ashkenazic and Arab populations with an incidence approximating that for Caucasians of European ancestry (1:1,800 to 1:4,000 live births). It is about half as frequent in the Sephardim, rare in the Iraqi or Yemenite Jews and perhaps absent in Iranian Jews. The clinical picture of cystic fibrosis in Israel in all the ethnic groups was found to be the same as elsewhere in the world. In-depth.interviews of 50 families were conducted to assess their understanding of the genetics of the disease and their attitude toward family planning.

摘要

1946年至1975年间,以色列共确诊了110个家庭中的140例囊性纤维化病例,有理由怀疑确诊不充分。囊性纤维化在阿什肯纳兹人和阿拉伯人群中很常见,发病率与欧洲血统的白种人相近(每1800至4000例活产中有1例)。在西班牙系犹太人中发病率约为前者的一半,在伊拉克或也门犹太人中很少见,在伊朗犹太人中可能不存在。研究发现,以色列所有种族群体中囊性纤维化的临床表现与世界其他地方相同。对50个家庭进行了深入访谈,以评估他们对该疾病遗传学的理解以及他们对计划生育的态度。

相似文献

1
Cystic fibrosis in Israel: clinical and genetic aspects.以色列的囊性纤维化:临床与遗传学方面
Isr J Med Sci. 1978 Feb;14(2):204-11.
2
Reaching the diagnosis of cystic fibrosis--the limits of the spectrum.达成囊性纤维化的诊断——疾病谱的界限
Isr Med Assoc J. 2000 Feb;2(2):94-8.
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Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.囊性纤维化的基因检测。美国国立卫生研究院关于囊性纤维化基因检测的共识发展会议声明。
Arch Intern Med. 1999 Jul 26;159(14):1529-39.
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[Clinical heterogeneity at the diagnosis in a cystic fibrosis population].
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Cystic fibrosis in New Zealand: incidence and mortality data.新西兰的囊性纤维化:发病率和死亡率数据。
N Z Med J. 1976 Apr 28;83(562):268-70.
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Subacute sclerosing panencephalitis: incidence among ethic groups in Israel.亚急性硬化性全脑炎:以色列不同种族群体中的发病率
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Cystic fibrosis mutations with widely variable phenotype: the D1152H example.具有广泛可变表型的囊性纤维化突变:D1152H实例
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Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.伊朗囊性纤维化患者CFTR基因分析:鉴定出八个新突变
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[Challenges of genetic diseases. About a genetic disease: cystic fibrosis].
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引用本文的文献

1
A comprehensive review of cystic fibrosis in Africa and Asia.非洲和亚洲囊性纤维化的综合综述。
Saudi J Biol Sci. 2023 Jul;30(7):103685. doi: 10.1016/j.sjbs.2023.103685. Epub 2023 May 19.
2
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。
Hum Genet. 1995 Aug;96(2):193-7. doi: 10.1007/BF00207378.
3
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.