II型并指（多指并指综合征）基因座定位于2q31区域，并鉴定出与HOXD8基因内标记紧密连锁。

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

作者信息

Sarfarazi M, Akarsu A N, Sayli B S

机构信息

Department of Surgery, University of Connecticut Health Center, Farmington, USA.

出版信息

Hum Mol Genet. 1995 Aug;4(8):1453-8. doi: 10.1093/hmg/4.8.1453.

DOI:10.1093/hmg/4.8.1453

PMID:7581388

Abstract

Syndactyly type II (SynPolyDactyly; SPD) is an autosomal dominant condition with incomplete penetrance and variable expressivity. Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 cM (Lod score = 12.96) centromeric to HOXD8 intragenic marker. Other homeobox-containing genes in this region have previously been ordered as cen-DLX1/DLX2-EVX2-(5' --> HOXD13..HOXD8.HOXD1 --> 3')-tel')-tel. A single recombinant with HOXD8 excluded the most 3' end of HOXD cluster as a candidate site for SPD, but a mutation in the 5' end of HOXD cluster, especially in HOXD13, EVX2 or DLX2/DLX1, may still be responsible for this phenotype. An updated order of D2S142-D2S111-(D2S335/D2S333)-D2S326-D2 S1238-SPD- (HOXD8/D2S1244)-(D2S300/D2S138)-D2S148- D2S324- D2S1384-D2S434 [sequence:see text] was deduced from meiotic recombination events.

摘要

II型并指（综合征性多指并指；SPD）是一种常染色体显性疾病，具有不完全外显率和可变表达性。利用一个有425人的家族中的62次减数分裂将SPD基因座定位到2q31区域，该区域位于HOXD8基因内标记的着丝粒侧约1.7厘摩处（Lod分数 = 12.96）。该区域其他含同源框的基因先前已排列为cen-DLX1/DLX2-EVX2-（5'→HOXD13..HOXD8.HOXD1→3'）-端粒）-端粒。与HOXD8的一次重组排除了HOXD簇最3'端作为SPD候选位点的可能性，但HOXD簇5'端的突变，尤其是HOXD13、EVX2或DLX2/DLX1中的突变，仍可能导致这种表型。根据减数分裂重组事件推导出了D2S142-D2S111-（D2S335/D2S333）-D2S326-D2 S1238-SPD-（HOXD8/D2S1244）-（D2S300/D2S138）-D2S148-D2S324-D2S1384-D2S434[序列：见正文]的更新顺序。