A closely linked genetic marker for cystic fibrosis
A closely linked genetic marker for cystic fibrosis
复制标题
囊性纤维化密切相关的遗传标记
作者：
Raymond White;S. Woodward;M. Leppert;P. O'Connell;M. Hoff;J. Herbst;J. Lalouel;M. Dean;G. Woude
囊性纤维化是一种隐性遗传疾病，临床表现为慢性阻塞性肺疾病、胰腺功能不全和汗液电解质升高；受影响的人很少能活过二十出头。囊性纤维化也是北欧人群中最常见的遗传性疾病之一。在一些人群中，突变等位基因携带者的频率估计高达1 / 20，每1500个新生儿中就有1个受影响。由于对突变基因引起的基本生化缺陷知之甚少，因此建议采用基于任意遗传标记和家族研究的遗传连锁方法来确定囊性纤维化（CF）基因的染色体位置。我们现在已经获得了CF位点和met癌基因位点DNA序列多态性之间紧密联系的证据。这一证据，结合本文中提供的met位点的物理定位数据1，表明CF位点位于7号染色体长臂的中间三分之一，可能在q21和q31带之间。
Cystic fibrosis is a recessive genetic disorder, characterized clinically by chronic obstructive lung disease, pancreatic insufficiency and elevated sweat electrolytes; affected individuals rarely live past their early twenties. Cystic fibrosis is also one of the most common genetic diseases in the northern European population. The frequency of carriers of mutant alleles in some populations is estimated to be as high as 1 in 20, carrying a concomitant burden of about one affected child in 1,500 births. Because little is known of the essential biochemical defect caused by the mutant gene, a genetic linkage approach based on arbitrary genetic markers and family studies is indicated to determine the chromosomal location of the cystic fibrosis (CF) gene. We have now obtained evidence for tight linkage between the CF locus and a DNA sequence polymorphism at the met oncogene locus. This evidence, combined with the physical localization data for the met locus presented in the accompanying paper1, places the CF locus in the middle third of the long arm of chromosome 7, probably between bands q21 and q31.
DOI：
10.1073/pnas.81.21.6812
发表时间：
1984-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
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作者：
COLLINS, FS;WEISSMAN, SM
通讯作者：
WEISSMAN, SM