两例成骨不全家族新生儿羊膜胶原蛋白初步分析

The Primary Study on Amnionic Collagen of Two Infants with Osteogenesis Imperfecta Families

本文对两例成骨不全(Osteogenesis imperfecta,OI)家族新生儿的羊膜胶原进行了分析。发现一例具有三代成骨不全家族史的新生儿胶原电泳图谱发生改变,在α_1(Ⅰ)条带上方出现一条明显新条带。将胶原进行重复胃酶降解提取,该条带消失。CNBr降解分析未见其降解片段有异常。

This paper reported the study on amnion collagen of two infants with osteogenesis imperfecta family history. The SDS-PAGE electrophoresis pattern of one infant was different from that of normal control. There was an extra band above a1(I) band. After digested by pepsin,this new band of collagen disappeared. No differences were found in CNBr cleavage analysis. This infant was born in a family which has osteogenesis imperfecta history for three generations.