Evidence for linkage of human primary systemic carnitine deficiency with D5S436:: A novel gene locus on chromosome 5q
Evidence for linkage of human primary systemic carnitine deficiency with D5S436:: A novel gene locus on chromosome 5q
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DOI：
10.1086/301911
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发表时间：
1998-07-01
影响因子：
9.8
通讯作者：
Takada, G
中科院分区：
文献类型：
--
作者：
Shoji, Y;Koizumi, A;Takada, G
Primary systemic carnitine deficiency (SCD) is a rare hereditary disorder transmitted by an autosomal recessive mode of inheritance. The disorder includes cardiomyopathy muscle weakness, hypoketotic coma with hypoglycemia, and hyperammonemia. In this study we conducted a linkage analysis of a Japanese SCD family with a proband-a 9-year-old girl-and 26 members. The serum and urinary carnitine levels were determined for all members. The entire genome was searched for linkage to the gene locus for SCD, by use of a total of similar to 300 polymorphic markers located similar to 15-20 cM apart. Ln the family, there were two significantly different phenotypes, in terms of serum free-carnitine levels: low serum free-carnitine level (29.5 +/- 5.0 mu M; n = 14) and normal serum Gee-carnitine level (46.8 +/- 6.2 mu M; n = 12). There was no correlation of urinary free-carnitine levels with the low serum-level phenotype (putative heterozygote), but in normal phenotypes (wild type) urinary levels decreased as the serum levels decreased; renal resorption of free carnitine appeared to be complete in wild-type individuals, when the serum free-carnitine level was
