Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
复制标题
使用酶法对干燥综合征进行产前诊断。
DOI：
10.1002/pd.1970140711
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发表时间：
1994
影响因子：
3
通讯作者：
Gardner,RJ
中科院分区：
文献类型：
--
作者：
Rizzo,WB;Craft,DA;Kelson,TL;Bonnefont,JP;Saudubray,JM;Schulman,JD;Black,SH;Tabsh,K;Dirocco,M;Gardner,RJ
干燥-拉尔森综合征（SLS）是一种常染色体隐性遗传疾病，其特征是存在先天性鱼鳞病、智力迟钝和痉挛。SLS中的主要生化缺陷最近已被鉴定为脂肪醛脱氢酶（FATIGAL DEHYDROGENERATION，FATIGAL ALOH 1：NAD'氧化还原酶（FATIGAL ALOH 1：NAD' OXIDOREDuctase，FAO）的一个组分）的缺乏。我们通过测定培养的胎盘细胞或培养的绒毛细胞中的FA 0和β-DH来监测4例有SLS风险的妊娠。在一个案例中，使用孕中期获得的巨噬细胞的酶结果预测了一个受影响的SLS胎儿，这在妊娠终止时得到证实。另一个高危胎儿被预测会受到SLS的影响，使用培养的绒毛膜绒毛细胞获得的第一个三个月，胎儿皮肤成纤维细胞混淆了一个深刻的缺陷FA 0和CD 3DH。另外两个胎儿被正确预测不受影响。这些结果表明，SLS可以产前诊断使用酶的方法。
Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spasticity. The primary biochemical defect in SLS has recently been identified to be a deficiency of fatty aldehyde dehydrogenase (FALDH), which is a component of fatty alcoho1: NAD'oxidoreductase (FAO). We monitored four pregnancies at risk for SLS by measuring FA 0 and FALDH in cultured amniocytes or cultured chorionic villus cells. The enzymatic results in one case using amniocytes obtained during the second trimester predicted an affected SLS fetus, which was confirmed at termination of the pregnancy. Another at-risk fetus was predicted to be affected with SLS using cultured chorionic villus cells obtained in the first trimester, and fetal skin fibroblasts confumed a profound deficiency of FA0 and FALDH. Two other fetuses were correctly predicted to be unaffected. These results demonstrate that SLS can be diagnosed prenatally using enzymatic methods.