Genetic homogeneity of lysinuric protein intolerance
Genetic homogeneity of lysinuric protein intolerance
复制标题
赖氨酸尿蛋白不耐受的遗传同质性
DOI：
10.1038/sj.ejhg.5200236
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发表时间：
1998
影响因子：
5.2
通讯作者：
P. Aula
中科院分区：
文献类型：
--
作者：
T. Lauteala;J. Mykkänen;M. P. Sperandeo;P. Gasparini;M. Savontaus;O. Simell;G. Andria;G. Sebastio;P. Aula
Lysinuric protein intolerance (LPI) is an autosomal recessive disorder in which transport of the cationic amino acids lysine, arginine and ornithine is defective at the basolateral membrane of the epithelial cells in the intestine and renal tubules. LPI is unusually common in Finland, but patients have been described on all continents. Linkage analysis in Finnish LPI families recently assigned the LPI gene locus to a 10 cM interval between markers D14S72 and MYH7 on the long arm of chromosome 14. In the present study linkage analysis of LPI families from six different non-Finnish populations strongly suggests genetic homogeneity in LPI. Peak lod scores were obtained at the chromosomal area between D14S72 and MYH7 with the same markers as in the Finnish families. The non-Finnish families showed no linkage disequilibrium except in an Italian family cluster, whereas strong allelic association in the Finnish families implies that LPI in Finland is caused by a founder mutation.
参数连锁分析。
DOI：
10.1385/1-59259-176-0:013
发表时间：
2002
期刊：
Methods in molecular biology (Clifton, N.J.)
影响因子：
--
作者：
Palmer,LyleJ;Schnell,AudreyH;Witte,JohnS;Elston,RobertC
通讯作者：
Elston,RobertC