巴德-比德尔综合征与11号染色体q臂上的DNA标记有关，且具有遗传异质性。

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

作者信息

Leppert M, Baird L, Anderson K L, Otterud B, Lupski J R, Lewis R A

机构信息

Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112.

出版信息

Nat Genet. 1994 May;7(1):108-12. doi: 10.1038/ng0594-108.

DOI:10.1038/ng0594-108

PMID:8075632

Abstract

Bardet-Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post-axial polydactylia, obesity and pigmentary retinopathy. We performed linkage analysis in 31 multiplex BBS families and report significant linkage with two markers on chromosome 11q, PYGM and AFM164zf12 (D11S913). Homogeneity testing demonstrates genetic heterogeneity within our set of families. Our data imply that a major gene, BBS1, is located on chromosome 11q, although mutations at other loci may also be associated with this phenotype.

摘要

巴德-比埃尔综合征（BBS）是一种罕见的常染色体隐性疾病，其特征为智力发育迟缓、轴后多指畸形、肥胖和色素性视网膜病变。我们对31个BBS复合家系进行了连锁分析，并报告了与11号染色体q臂上的两个标记PYGM和AFM164zf12（D11S913）存在显著连锁。同质性检验表明我们的家系组内存在遗传异质性。我们的数据表明，一个主要基因BBS1位于11号染色体q臂上，尽管其他位点的突变也可能与该表型相关。