唇腭裂家族中人类白细胞抗原（HLA）的分离：反对孤立性腭裂与HLA之间存在连锁关系的证据。

Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA.

作者信息

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

出版信息

Am J Med Genet. 1983 May;15(1):85-8. doi: 10.1002/ajmg.1320150111.

DOI:10.1002/ajmg.1320150111

Abstract

In an earlier study of families with two or more sibs affected with a cleft of the lip with or without clefts of the palate, we found no evidence for close linkage of HLA with this malformation. In the present study, we confine our attention to isolated cleft palate, an entity that is genetically distinct from cleft palate associated with cleft lip. In 15 sibships with two or more affected sibs, cleft palate, and parental HLA haplotypes assorted independently in the affected sibs, providing evidence against close linkage of this phenotype.

摘要

在一项早期针对有两个或更多患唇裂（伴或不伴腭裂）同胞的家庭研究中，我们未发现HLA与这种畸形存在紧密连锁的证据。在本研究中，我们将注意力集中于孤立性腭裂，这是一种在遗传上与唇裂相关腭裂不同的病症。在15个有两个或更多患病同胞、患有腭裂且父母HLA单倍型的同胞关系中，受影响同胞的腭裂和父母HLA单倍型独立分配，这为反对这种表型的紧密连锁提供了证据。