DNA-BASED PRENATAL-DIAGNOSIS OF THE INFANTILE FORM OF NEURONAL CEROID LIPOFUSCINOSIS (INCL, CLN1)

被引：23

作者：

JARVELA, I

RAPOLA, J

PELTONEN, L

PUHAKKA, L

VESA, J

AMMALA, P

SALONEN, R

RYYNANEN, M

HARING, P

MUSTONEN, A

SANTAVUORI, P

机构：

[1] UNIV HELSINKI,DEPT PATHOL,SF-00100 HELSINKI 10,FINLAND

[2] UNIV HELSINKI,DEPT OBSTET & GYNECOL,SF-00100 HELSINKI 10,FINLAND

[3] UNIV HELSINKI,PRENATAL GENET LAB,SF-00100 HELSINKI 10,FINLAND

[4] KUOPIO UNIV HOSP,DEPT CLIN GENET,KUOPIO,FINLAND

[5] KUOPIO UNIV HOSP,DEPT OBSTET & GYNECOL,KUOPIO,FINLAND

[6] UNIV HELSINKI,DEPT CHILD NEUROL,SF-00100 HELSINKI 10,FINLAND

来源：

PRENATAL DIAGNOSIS | 1991年 / 11卷 / 05期

关键词：

PRENATAL DIAGNOSIS; INCL; DNA ANALYSIS; ELECTRON MICROSCOPY;

D O I：

10.1002/pd.1970110508

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.

引用

页码：323 / 328

页数：6

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