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Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.

Abstract：

:Hartnup disorder is an autosomal recessive phenotype involving a transporter for monoamino-monocarboxylic acids. Genetic analysis of the mouse model mapped its locus to human chromosome 11q13 (8). We report here the results of linkage analysis in two Japanese first cousin-marriage families. In the first family, the proband had Hartnup disorder and his deceased older brother was reported to have had typical Hartnup symptoms. The younger brother of the proband was shown to have decreased tryptophan absorption by oral loading test. In the second family, a 6-year-old girl, the proband, had specific hyperaminoaciduria. DNA was isolated from either blood samples or umbilical cord stumps. Genome-wide screening by homozygosity mapping was conducted. Taking into account that the older brother was affected and the younger brother was a carrier in the first family, homozygosity mapping (LOD score = 3.55) and GENEHUNTER (LOD score = 3.28) locates the locus of the Hartnup disorder on 5p15.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Nozaki J,Dakeishi M,Ohura T,Inoue K,Manabe M,Wada Y,Koizumi A

doi

10.1006/bbrc.2001.4961

subject

Has Abstract

pub_date

2001-06-08 00:00:00

pages

255-60

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006291X01949617

journal_volume

284

pub_type

杂志文章

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