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唇裂或唇腭裂同胞中HLA的分离:反对基因连锁的证据

Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against genetic linkage.

作者信息

Van Dyke D C, Goldman A S, Spielman R S, Zmijewski C M, Oka S W

出版信息

Cleft Palate J. 1980 Jul;17(3):189-93.

PMID:6930992
Abstract

The segregation of HLA haplotypes (A, B, and C loci) was studied in eight families in which two sibs were affected with cleft lip or cleft lip and palate. HLA typing was performed in parents and sibs and in specific cases, other family members. Segregation of HLA haplotypes did not differ significantly from random Mendelian expectation. Three of the eight affected sib pairs differed in both HLA haplotypes, which is not expected if there is close linkage with susceptibility to clefting. Thus, it is very unlikely that spontaneous cleft lip or cleft lip and palate is closely linked to HLA.

摘要

在八个家庭中研究了HLA单倍型(A、B和C位点)的分离情况,这些家庭中有两个兄弟姐妹患有唇裂或唇腭裂。对父母、兄弟姐妹以及特定情况下的其他家庭成员进行了HLA分型。HLA单倍型的分离与随机孟德尔预期无显著差异。八个受影响的兄弟姐妹对中有三个在HLA单倍型上均不同,如果与腭裂易感性存在紧密连锁,这是不符合预期的。因此,自发唇裂或唇腭裂与HLA紧密连锁的可能性非常小。

相似文献

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Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against genetic linkage.唇裂或唇腭裂同胞中HLA的分离:反对基因连锁的证据
Cleft Palate J. 1980 Jul;17(3):189-93.
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引用本文的文献

1
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.排除候选基因在伴或不伴腭裂的唇裂发病中的作用:连锁与关联研究
J Med Genet. 1993 Sep;30(9):773-8. doi: 10.1136/jmg.30.9.773.
2
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.非综合征性唇腭裂:无与HLA或因子13A连锁的证据。
Am J Hum Genet. 1993 Jun;52(6):1230-3.
3
An epidemiological and genetic study of facial clefting in France. II Segregation analysis.法国面部裂的流行病学与遗传学研究。II 分离分析
J Med Genet. 1984 Dec;21(6):436-40. doi: 10.1136/jmg.21.6.436.