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先天性肾上腺皮质增生症是肾上腺皮质激素合成过程中几种酶缺陷引起的一组疾病,其中以21-羟化酶缺陷引起者最为多见。早期的研究已经证明21-羟化酶缺陷这一常染色体隐性性状与HLA-B呈紧密连锁,许多家系HLA系统内的重组研究则提示21-羟化酶缺陷基因位于HLA-B与HLA-D两个位点之间。由于至今尚未发现21-羟化酶与HLA-B之间有重组的存在,因此HLA-B即成了该病产前诊断的一个遗传学标记。过去,本病的产前诊断主要有两种方法:一是确定羊水细胞的HLA类型并与其父母及已患病者(胎儿同胞)的HLA类型
Congenital adrenal hyperplasia is a group of diseases caused by several enzyme defects in the process of adrenal cortical hormone synthesis, of which 21-hydroxylase deficiency caused the most common. Earlier studies have shown that 21-hydroxylase deficiency is an autosomal recessive trait closely linked to HLA-B. Many studies in family HLA recombination suggest that the 21-hydroxylase deficiency gene is located between HLA-B and HLA- D between two sites. Since no recombination between 21-hydroxylase and HLA-B has been found so far, HLA-B has become a genetic marker of prenatal diagnosis of the disease. In the past, the prenatal diagnosis of the disease there are two main ways: First, determine the HLA type of amniotic fluid cells and their parents and has been ill (fetal siblings) HLA type