Lauteala T, Mykkänen J, Sperandeo M P, Gasparini P, Savontaus M L, Simell O, Andria G, Sebastio G, Aula P
Department of Medical Genetics, University of Turku, Finland.
Eur J Hum Genet. 1998 Nov-Dec;6(6):612-5. doi: 10.1038/sj.ejhg.5200236.
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.
赖氨酸尿性蛋白不耐受症（LPI）是一种常染色体隐性疾病，其中，阳离子氨基酸赖氨酸、精氨酸和鸟氨酸在小肠和肾小管上皮细胞基底外侧膜的转运存在缺陷。LPI在芬兰异常常见，但各大洲均有病例报道。最近对芬兰LPI家族进行的连锁分析将LPI基因位点定位于14号染色体长臂上标记D14S72和MYH7之间10厘摩的区间内。在本研究中，对来自六个不同非芬兰人群的LPI家族进行的连锁分析有力地表明LPI存在基因同质性。使用与芬兰家族相同的标记，在D14S72和MYH7之间的染色体区域获得了最高对数优势分数。除了一个意大利家族群组外，非芬兰家族未显示连锁不平衡，而芬兰家族中强烈的等位基因关联意味着芬兰的LPI是由奠基者突变引起的。
