14号染色体14q11位点T细胞受体α/δ基因簇内赖氨酸尿蛋白不耐受（LPI）区域的特征分析

Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.

作者信息

Lauteala T, Mykkänen J, Horelli-Kuitunen N, Aaltonen J, Paavola P, Savontaus M L, Simell O, Aula P

机构信息

Department of Medical Genetics, University of Turku, Finland.

出版信息

Hereditas. 1999;130(1):19-24. doi: 10.1111/j.1601-5223.1999.00019.x.

DOI:10.1111/j.1601-5223.1999.00019.x

PMID:10364825

Abstract

Lysinuric protein intolerance is a recessively inherited metabolic disease characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Linkage analysis and further linkage disequilibrium in Finnish LPI families have earlier assigned LPI gene locus within or in close vicinity of T-cell receptor alpha/delta gene cluster on chromosome site 14q11. In the present work we have characterized the linkage defined LPI region using RH-mapping and fiber-FISH and searched the LPI gene from the reported sequence of the T-cell receptor gene.

摘要

赖氨酸尿性蛋白不耐受症是一种隐性遗传代谢疾病，其特征是肠道和肾小管上皮细胞基底外侧膜上阳离子氨基酸的外排存在缺陷。芬兰赖氨酸尿性蛋白不耐受症（LPI）家族的连锁分析及进一步的连锁不平衡研究，此前已将LPI基因位点定位在14号染色体q11位点的T细胞受体α/δ基因簇内或其附近。在本研究中，我们利用RH定位和纤维荧光原位杂交技术对连锁确定的LPI区域进行了特征分析，并从已报道的T细胞受体基因序列中寻找LPI基因。