3号染色体短臂上隐性非综合征性智力障碍的候选基因（MRT2A）。
Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A).
作者信息
Higgins J J, Pucilowska J, Lombardi R Q, Rooney J P
机构信息
Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, 279 Main Street, New Paltz, NY 12561, USA.
出版信息
Clin Genet. 2004 Jun;65(6):496-500. doi: 10.1111/j.0009-9163.2004.00267.x.
A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR.
一种轻度常染色体隐性非综合征性智力迟钝（NSMR）与3号染色体短臂上的位点相关。本报告将MRT2A最小关键区域界定在D3S3630和D3S1304两个位点之间4.2兆碱基的范围内。此区间包含九个基因（IL5RA、TRNT1、LRRN1、SETMAR、SUMF1、ITPR1、BHLHB2、EDEM和MRPS36P1）。结果表明这些基因不存在突变，且该区域内一个未知转录本导致了NSMR中的认知缺陷。
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