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意大利囊性纤维化的同质性。

Homogeneity of cystic fibrosis in Italy.

作者信息

Vitale E, Devoto M, Mastella G, Romeo G

出版信息

Am J Hum Genet. 1986 Dec;39(6):832-6.

Abstract

In 12 unrelated Italian cystic fibrosis (CF) families the frequencies of four DNA polymorphisms closely linked to the CF gene on chromosome 7 were quite similar to those reported for other population samples. Among the 23 affected children from the 12 families, only one recombinant occurred between the CF gene and the met locus, thus confirming the hypothesis of genetic homogeneity of CF previously suggested by the analysis of consanguineous marriages among 624 couples of CF parents. Chi-square test of association indicates a possible linkage disequilibrium between the CF gene and the DNA polymorphism that is most informative in our sample (pmetH TaqI).

摘要

在12个无亲缘关系的意大利囊性纤维化(CF)家族中,与7号染色体上CF基因紧密连锁的4种DNA多态性频率与其他群体样本所报告的频率非常相似。在这12个家族的23名患病儿童中,CF基因与met位点之间仅出现了1例重组,从而证实了先前通过对624对CF父母近亲婚姻分析所提出的CF基因同质性假说。关联的卡方检验表明,CF基因与我们样本中信息最丰富的DNA多态性(pmetH TaqI)之间可能存在连锁不平衡。

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本文引用的文献

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Linkage analysis and family classification under heterogeneity.异质性下的连锁分析与家系分类
Ann Hum Genet. 1983 Oct;47(4):311-20. doi: 10.1111/j.1469-1809.1983.tb01001.x.
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Genomic sequencing.基因组测序
Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991-5. doi: 10.1073/pnas.81.7.1991.
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A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.
Nature. 1985;318(6044):380-2. doi: 10.1038/318380a0.

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