北京大学学报（医学版）
北京大學學報（醫學版）
북경대학학보（의학판）
JOURNAL OF BEIJING MEDICAL UNIVERSITY(HEALTH SCIENCES)
2005年
1期
20-25
,共6页
产前诊断%分子诊断技术%神经元蜡样质脂褐质沉积病%等位基因特异性引物延伸法%溶酶体脂蛋白沉积病
產前診斷%分子診斷技術%神經元蠟樣質脂褐質沉積病%等位基因特異性引物延伸法%溶酶體脂蛋白沉積病
산전진단%분자진단기술%신경원사양질지갈질침적병%등위기인특이성인물연신법%용매체지단백침적병
Prenatal diagnosis%Molecular diagnostic techniques%Neuronal ceroid-lipofuscinosis%Allele specific primer extension (ASPE)%Lysosomal lipoprotein storage disease
SUMMARY Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN1 and CLN2, respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutation(s) have been identified. Molecular testing with allele-specific primer extension and DNA sequencing was performed in nine pregnancies, four from two NCL1 families and five from five NCL2 families. Lysosomal enzyme activity assays were carried out as well.Four fetuses from three pregnancies in NCL1 families were found to be carriers for a mutation 451C-T in the CLN1 gene and one was normal. Prenatal testing of three NCL2 families who carried mutation R208X in the CLN2 gene showed that all fetuses were carriers. In NCL2 families who carried either mutation IVS5-1C or/and IVS5-1A two normal pregnancies were detected. Our studies indicate that DNA testing, which may provide definitive prenatal diagnosis for NCL, may be used in combination with lysosomal enzyme activity analyses.
