SPONDYLOEPIPHYSEAL DYSPLASIA, MILD AUTOSOMAL DOMINANT TYPE IS NOT DUE TO PRIMARY DEFECTS OF TYPE-II COLLAGEN
SPONDYLOEPIPHYSEAL DYSPLASIA, MILD AUTOSOMAL DOMINANT TYPE IS NOT DUE TO PRIMARY DEFECTS OF TYPE-II COLLAGEN
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DOI：
10.1002/ajmg.1320370223
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发表时间：
1990-10-01
期刊：
影响因子：
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通讯作者：
BEIGHTON, P
中科院分区：
文献类型：
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作者：
ANDERSON, IJ;TSIPOURAS, P;BEIGHTON, P
一个轻微的常染色体显性形式的脊椎骨骺发育不良（SED）是存在于几代南非家庭的英国股票。这种表型不同于先前描述的任何其他表型。虽然在一些SED先天性家族中发现了II型胶原缺陷，但我们家族的表型与COL2A1基因相关的限制性片段长度多态性（RFLPs）不一致，COL2A1基因相关的限制性片段长度多态性是II型胶原结构位点的标记。很明显，SED组的疾病是异质性的。
A mild autosomal dominant form of spondyloepiphyseal dysplasia (SED) is present in several generations of a South African family of English stock. This phenotype differs from that of any other previously described. Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen. It is evident that the SED group of disorders is heterogeneous.