赖氨酸尿性蛋白不耐受症（LPI）基因定位于14号染色体长臂。

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

作者信息

Lauteala T, Sistonen P, Savontaus M L, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P

机构信息

Department of Medical Genetics, University of Turku, Finland.

出版信息

Am J Hum Genet. 1997 Jun;60(6):1479-86. doi: 10.1086/515457.

DOI:10.1086/515457

PMID:9199570

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1716131/

Abstract

Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinations placed the locus between framework markers D14S72 and MYH7, a 10-cM interval in which the markers D14S742, D14S50, D14S283, and TCRA showed no recombinations with the phenotype. The phenotype was in highly significant linkage disequilibrium with markers D14S50, D14S283, and TCRA. The strongest allelic association obtained with marker TCRA, resulting in a P(excess) value of .98, suggests that the LPI gene locus lies in close proximity to this marker, probably within a distance of < 100 kb.

摘要

赖氨酸尿性蛋白不耐受症（LPI）是一种常染色体隐性疾病，其特征为阳离子氨基酸转运缺陷和高氨血症。对20个芬兰LPI家族进行的连锁分析将LPI基因位点定位于14号染色体长臂近端。重组将该位点定位在框架标记D14S72和MYH7之间，这是一个10厘摩的区间，其中标记D14S742、D14S50、D14S283和TCRA与该表型无重组。该表型与标记D14S50、D14S283和TCRA存在高度显著的连锁不平衡。与标记TCRA获得的最强等位基因关联产生的P（过量）值为0.98，表明LPI基因位点紧邻该标记，可能在<100 kb的距离内。