MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
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DOI：
10.1016/0092-8674(94)90527-4
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发表时间：
1994-08-26
期刊：
影响因子：
64.5
通讯作者：
CAMPBELL, KP
中科院分区：
文献类型：
--
作者：
ROBERDS, SL;LETURCQ, F;CAMPBELL, KP
粘附素是一种50 kDa的肌营养不良蛋白相关糖蛋白，在严重的儿童常染色体隐性遗传性肌营养不良症(SCARMD)患者的骨骼肌中缺乏。在几个北非家族中，SCARMD与染色体13q连锁，但在其他家族中，SCARMD被排除在与该基因连锁之外。我们现在已经克隆了人Adhalin基因，并将其定位在染色体17q12-q21.33上，排除了它参与13q连锁的SCARMD。然而，位于adhalin基因内含子6的一个多态微卫星的一个等位变异与一个大家族的疾病表型完全分离。此外，在该家系中发现了可能导致SCARMD的adhalin基因错义突变。因此，Adhalin基因与至少一种形式的常染色体隐性遗传性肌营养不良症有关。
Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In several North African families, SCARMD has been linked to chromosome 13q, but SCARMD has been excluded from linkage to this locus in other families. We have now cloned human adhalin cDNA and mapped the adhalin gene to chromosome 17q12-q21.33, excluding it from involvement in 13q-linked SCARMD. However, one allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene cosegregated perfectly with the disease phenotype in a large family. Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy.