CHARACTERIZATION OF CDNA CLONES CONTAINING CCA TRINUCLEOTIDE REPEATS DERIVED FROM HUMAN BRAIN

被引：14

作者：

MARGOLIS, RL

BRESCHEL, TS

LI, SH

KIDWAI, AS

ANTONARAKIS, SE

MCINNIS, MG

ROSS, CA

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,MOLEC NEUROBIOL LAB,BALTIMORE,MD 21205

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT PSYCHIAT,BALTIMORE,MD 21205

[3] JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROSCI,BALTIMORE,MD 21205

[4] JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,BALTIMORE,MD 21205

[5] JOHNS HOPKINS UNIV,SCH MED,PROGRAM CELLULAR & MOLEC MED,BALTIMORE,MD 21205

[6] UNIV GENEVA,DEPT GENET,GENEVA,SWITZERLAND

来源：

SOMATIC CELL AND MOLECULAR GENETICS | 1995年 / 21卷 / 04期

关键词：

D O I：

10.1007/BF02255782

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Expansion mutation is the cause of eight neuropsychiatric disorders. Thus far each disease is the result of expansion of a C-G rich trinucleotide repeat that is polymorphic for length in the general population. We now report the identification of seven novel cDNA clones with CCA or equivalent trinucleotide repeats obtained by screening a human frontal cortex cDNA library. The repeat lengths of two clones, CCA11 (linked to D20S101, expressed in human brain as a 3.2 kb message) and CCA38 (linked to D5S404), are highly polymorphic in a normal human population. CCA54, mapped to chromosome 19, appears to correspond to a portion of the human gene encoding the alpha 1 subunit of a P-type calcium channel Expansion mutations at these loci should be considered as possible candidates in evaluating the genetic etiologies of diseases linked to chromosomes 5, 19, and 20.

引用

页码：279 / 284

页数：6

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