SLC7A7结构基因和突变分析的患者受到lysinuric蛋白不耐受的影响。
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Sperandeo MP,低音部MT, Riboni M, Parenti G, Buoninconti,曼卓尼M, Incerti B, Larocca先生,Di Rocco M, Strisciuglio P, Dianzani我Parini R, Candito M, Endo F, Ballabio,安德里亚G, G Sebastio, Borsani G
SLC7A7结构基因和突变分析的患者受到lysinuric蛋白不耐受的影响。
J哼麝猫。2000年1月,66 (1):92 - 9。
- PubMed ID
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10631139 (在PubMed]
- 文摘
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Lysinuric蛋白不耐受(LPI)是一种罕见的常染色体隐性缺陷的阳离子氨基酸运输由SLC7A7基因的突变引起的。我们报告的基因组结构基因和突变分析的结果在意大利,突尼斯和日本病人。SLC7A7基因由10个外显子;这里的所有报告exon-intron边界序列。所有的突变等位基因特点和八个小说突变检测,包括两个错义突变,242 - - - > C (M1L)和1399 C - - > (S386R);无义突变967 g - - > (W242X);两个接头突变IVS3 + 1 g - - > IVS6 + 1 g - - > T;单一碱基插入,786本月;和两个4-bp删除455 delctct和1425 delttct。此外,先前报道的突变,1625 insatca,被发现在一个病人。 It is noteworthy that 242A-->C causes the change of Met1 to Leu, a rare mutational event previously found in a few inherited conditions. We failed to establish a genotype/phenotype correlation. In fact, both intrafamilial and interfamilial phenotypic variability were observed in homozygotes for the same mutation. The DNA-based tests are now easily accessible for molecular diagnosis, genetic counseling, and prenatal diagnosis of LPI.