人类全羧化酶合成酶基因（HCS）定位于21号染色体21q22的唐氏综合征关键区域。

Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22.

作者信息

Blouin J L, Duriaux Saïl G, Antonarakis S E

机构信息

Division of Medical Genetics, Cantonal Hospital, Geneva, Switzerland.

出版信息

Ann Genet. 1996;39(3):185-8.

PMID:8839893

Abstract

Exon trapping/amplification was used to clone portions of genes from the Down syndrome critical region (DSCR) of human chromosome 21q22. Two trapped sequences showed complete homology with nucleotide sequence D23672 of Genbank which corresponds to the gene for the human holocarboxylase synthetase (HCS) that was previously assigned to chromosome 21. We precisely mapped this gene to the DSCR by somatic cell hybrids, chromosome 21-specific YACs, and hybridization to chromosome 21-specific cosmids; it localizes to YACs 745H11 and 230E8 of the Chumakov et al. (Nature 359:380, 1992) YAC contig in a region of less that one megabase between markers D21S333 and D21S267. This HCS gene may contribute in a gene dosage-dependent manner to the phenotype of Down syndrome.

摘要

外显子捕获/扩增技术被用于从人类21号染色体q22区的唐氏综合征关键区域（DSCR）克隆基因片段。两个捕获的序列与Genbank中的核苷酸序列D23672完全同源，该序列对应于人类全羧化酶合成酶（HCS）的基因，该基因先前已被定位到21号染色体。我们通过体细胞杂种、21号染色体特异性酵母人工染色体（YAC）以及与21号染色体特异性黏粒杂交，将该基因精确地定位到DSCR；它定位于Chumakov等人（《自然》359:380，1992）YAC重叠群中的YAC 745H11和230E8，位于标记D21S333和D21S267之间小于1兆碱基的区域。这个HCS基因可能以基因剂量依赖的方式对唐氏综合征的表型产生影响。