激素敏感性脂肪酶（LIPE）基因定位于19号染色体q13.1至q13.2区域。

Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-->q13.2.

作者信息

Levitt R C, Liu Z, Nouri N, Meyers D A, Brandriff B, Mohrenweiser H M

机构信息

Department of Anesthesiology and Critical Care Medicine, Johns Hopkins Medical Institutions, Baltimore MD, USA.

出版信息

Cytogenet Cell Genet. 1995;69(3-4):211-4. doi: 10.1159/000133966.

DOI:10.1159/000133966

PMID:7698015

Abstract

Free fatty acids are the major source of fuel for mammals, and hormone sensitive lipase (LIPE) plays a critical role in lipid metabolism by mobilizing free fatty acids from stored triglycerides. We have identified and sequenced a partial cDNA for LIPE. Cosmids were identified by hybridization and mapped to 19q13.1-->q13.2 by FISH. Direct sequence analysis of a 1 kb segment of cosmid 26710 identifies a dinucleotide repeat in an intron upstream of exon 8 of human LIPE. This marker was heterozygous 82% of the time with 12 alleles (166-190 bp) detected in 122 chromosomes. The most likely order for this gene is: qter-[D19S178/LIPE]-(3 cM)-D19S47-(1 cM)-D19S190-RYR1-cen.

摘要

游离脂肪酸是哺乳动物的主要燃料来源，激素敏感脂肪酶（LIPE）通过从储存的甘油三酯中动员游离脂肪酸，在脂质代谢中起关键作用。我们已鉴定并测序了LIPE的部分cDNA。通过杂交鉴定出粘粒，并通过荧光原位杂交（FISH）将其定位到19q13.1→q13.2。对粘粒26710的1 kb片段进行直接序列分析，发现在人LIPE外显子8上游的一个内含子中有一个二核苷酸重复序列。该标记在122条染色体中检测到12个等位基因（166 - 190 bp），杂合率为82%。该基因最可能的顺序是：qter - [D19S178/LIPE] - （3 cM） - D19S47 - （1 cM） - D19S190 - RYR1 - cen。