对2号染色体上伴肌动蛋白和肌联蛋白基因的精细定位，使得伴肌动蛋白可被确定为常染色体隐性杆状体肌病的候选基因。

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.

作者信息

Pelin K, Ridanpää M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Eur J Hum Genet. 1997 Jul-Aug;5(4):229-34.

PMID:9359044

Abstract

A locus for autosomal recessive nemaline myopathy (NEM2) has been assigned by linkage analysis to a 13-cM region between the markers D2S150 and D2S142 on 2q21.2-q22. The genes for the giant muscle proteins nebulin and titin have previously been assigned by FISH to 2q24.1-q24.2 and 2q31, respectively. By using radiation hybrid mapping, we have reassigned the nebulin gene close to the microsatellite marker D2S2236 on 2q22 and the titin gene to the vicinity of the markers D2S384 and D2S364 on 2q24.3. The genomic orientation of the nebulin gene was determined as 5'-3' and of TTN as 3'-5' from the centromere. We conclude that the nebulin gene resides within the candidate region for NEM2 on the long arm of chromosome 2, while the titin gene is located outside this region.

摘要

通过连锁分析，已将常染色体隐性杆状体肌病（NEM2）的一个基因座定位于2q21.2 - q22上标记D2S150和D2S142之间13厘摩的区域。此前通过荧光原位杂交（FISH）分别将巨大肌肉蛋白伴肌动蛋白和肌联蛋白的基因定位于2q24.1 - q24.2和2q31。通过辐射杂种图谱分析，我们重新确定伴肌动蛋白基因靠近2q22上的微卫星标记D2S2236，而肌联蛋白基因位于2q24.3上标记D2S384和D2S364附近。从着丝粒确定伴肌动蛋白基因的基因组方向为5'-3'，肌联蛋白基因的方向为3'-5'。我们得出结论，伴肌动蛋白基因位于2号染色体长臂上NEM2的候选区域内，而肌联蛋白基因位于该区域之外。