在原α1（II）型胶原链中，精氨酸789反复被半胱氨酸替代会导致先天性脊椎骨骺发育不良。
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
作者信息
Chan D, Rogers J F, Bateman J F, Cole W G
机构信息
Department of Pediatrics, Royal Children's Hospital, Parkville, Victoria, Australia.
出版信息
J Rheumatol Suppl. 1995 Feb;43:37-8.
PMID:7752132
Abstract
A child with typical spondyloepiphyseal dysplasia congenita had a recurrent, heterozygous substitution of arginine 789 by cysteine in the triple helical domain of alpha 1 (II) chains of type II collagen. The amino substitution was due to the transition of cytosine 2913 to thymine in exon 41 of the COL2A1 gene. The amino acid substitution involved the Y position of a Gly-X-Y triplet.
摘要
一名患有典型先天性脊椎骨骺发育不良的儿童，其II型胶原蛋白α1（II）链三螺旋结构域中的精氨酸789反复发生杂合性被半胱氨酸替代的情况。这种氨基酸替代是由于COL2A1基因第41外显子中的胞嘧啶2913突变为胸腺嘧啶所致。该氨基酸替代涉及甘氨酸-X-酪氨酸三联体的Y位置。
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