Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
复制标题
Bethlem 肌病基因座异质性以及与 2q37 连锁的证据。
DOI：
10.1093/hmg/5.7.1043
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发表时间：
1996
影响因子：
3.5
通讯作者：
Pericak-Vance,MA
中科院分区：
文献类型：
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作者：
Speer,MC;Tandan,R;Rao,PN;Fries,T;Stajich,JM;Bolhuis,PA;Jöbsis,GJ;Vance,JM;Viles,KD;Sheffield,K;James,C;Kahler,SG;Pettenati,M;Gilbert,JR;Denton,PH;Yamaoka,LH;Pericak-Vance,MA
Bethlem肌病是一种儿童期发病的常染色体显性遗传性肌病，伴有关节挛缩，最近在一系列荷兰家系中被定位于21 q，VI型胶原α1和α2亚基（COL6A1和COL6A2）被假定为候选基因。我们调查了一个大家庭的法裔加拿大血统（家庭1489），其中Bethlem肌病是隔离。家族1489与21 q上的感兴趣区域无关，因此证明了Bethlem肌病分类中的基因座异质性。鉴于编码VI型胶原α1和α2亚基的基因定位于染色体21 q，我们对VI型胶原α3亚基定位的染色体2q进行了连锁分析。我们证明了在这个区域的标记连锁，定义了疾病基因定位的区域，并通过FISH分析证实了COL6A3位于感兴趣的区间内，使COL6A3成为Bethlem肌病的可行候选基因。
The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the α1 and α2 subunits of type VI collagen (COL6A1andCOL6A2) have been postulated as candidate genes. We investigate a large family of French Canadian descent (family 1489) in which the Bethlem myopathy is segregating. Family 1489 is unlinked to the region of interest on 21q, thus demonstrating locus heterogeneity within the Bethlem myopathy classification. In view of the localization of the genes coding the α1 and α2 subunits of type VI collagen on chromosome 21q, we carried out linkage analysis on chromosome 2q where the α3 subunit of type VI collagen has been localized. We demonstrate linkage to markers in this region, define the region of disease gene localization, and confirm by FISH analysis thatCOL6A3is located within the interval of interest makingCOL6A3a feasible candidate gene for the Bethlem myopathy.