对多个家庭中主要组织相容性系统与青少年胰岛素依赖型糖尿病之间的连锁分析。数据重新分析。
Analysis of linkage between the major histocompatibility system and juvenile, insulin-dependent diabetes in multiplex families. Reanalysis of data.
作者信息
Barbosa J, Chern M M, Noreen H, Anderson V E
出版信息
J Clin Invest. 1978 Aug;62(2):492-5. doi: 10.1172/JCI109151.
Linkage analysis between the major histocompatibility system (HLA) and juvenile, insulin-dependent diabetes, assuming an autosomal recessive mode and 50% penetrance was performed on 21 juvenile, insulin-dependent diabetic multiplex families (two or more diabetics per sibship) with phenotypically normal parents. The total lod score was the highest (3.98) at a recombination fraction of 13%. For a penetrance of 100%, the highest total lod score was 2.92 at a recombination fraction of 18%. These results are compatible with the existence of linkage between an autosomal recessive diabetic gene with 50% penetrance and the HLA in some of the families studied. Our ascertainment strategy would be expected to increase the likelihood of selecting for genetically homogenous diabetes and against sporadic forms of the disease. Thus, our findings may apply only to a small proportion of all cases of juvenile, insulin-dependent diabetes.
假设为常染色体隐性模式且外显率为50%，对21个青少年胰岛素依赖型糖尿病的多重家庭（每个同胞组中有两个或更多糖尿病患者）且父母表型正常的家庭进行了主要组织相容性系统（HLA）与青少年胰岛素依赖型糖尿病之间的连锁分析。在重组率为13%时，总连锁值最高（3.98）。对于外显率为100%的情况，在重组率为18%时，最高总连锁值为2.92。这些结果与在所研究的一些家庭中，一个外显率为50%的常染色体隐性糖尿病基因与HLA之间存在连锁关系相符。我们的确诊策略预期会增加选择遗传同质糖尿病并排除散发性疾病形式的可能性。因此，我们的发现可能仅适用于所有青少年胰岛素依赖型糖尿病病例中的一小部分。
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