Long homozygous chromosomal segments in reference families from the Centre d'Etude du Polymorphisme Humain
Long homozygous chromosomal segments in reference families from the Centre d'Etude du Polymorphisme Humain
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DOI：
10.1086/302661
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发表时间：
1999-12-01
影响因子：
9.8
通讯作者：
Weber, JL
中科院分区：
文献类型：
--
作者：
Broman, KW;Weber, JL
利用来自人类多态性研究中心（CEPH）的8个参考家族的近8000个短串联重复多态性的基因型，我们在许多CEPH个体中发现了许多标记纯合的长染色体片段。这些片段可能代表自合子，是相关个体交配的结果。只有用高密度的标记才能确定整个片段是纯合的。8个家族中最长的片段长度为77 cM，包含118个纯合标记。884家系所有个体均表现出至少1个纯合性片段，父本和母本在8个和10个片段上纯合，平均长度分别为13和16 cM，覆盖面积分别为105和160 cM。884家族的后代为纯合子，有5 ~ 16个片段，平均长度为11 cM。102家系后代为纯合子，有4 ~ 12个区段，平均长19 cM。另外6个家系的100个个体中，有1个纯合子片段特别长，19个纯合子片段较短但显著。我们的研究结果表明，长纯合子片段在人类中很常见，这些片段可能对基因定位和健康产生重大影响。
Using genotypes from nearly 8,000 short tandem-repeat polymorphisms typed in eight of the reference families from the Centre d'Etude du Polymorphisme Humain (CEPH), we identified numerous long chromosomal segments of marker homozygosity in many CEPH individuals. These segments are likely to represent autozygosity, the result of the mating of related individuals. Confidence that the complete segment is homozygous is gained only with markers of high density. The longest segment in the eight families spanned 77 cM and included 118 homozygous markers. All individuals in family 884 showed at least one segment of homozygosity: the father and mother were homozygous in 8 and 10 segments with an average length of 13 and 16 cM, respectively, and covering a total of 105 and 160 cM, respectively. The progeny in family 884 were homozygous over 5-16 segments with average length 11 cM. The progeny in family 102 were homozygous over 4-12 segments with average length 19 cM. Of the 100 individuals in the other six families, 1 had especially long homozygous segments, and 19 had short but significant homozygous segments. Our results indicate that long homozygous segments are common in humans and that these segments could have a substantial impact on gene mapping and health.