Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique

被引：87

作者：

Willemsen, R

Smits, A

Mohkamsing, S

vanBeerendonk, H

deHaan, A

deVries, B

vandenOuweland, A

Sistermans, E

Galjaard, H

Oostra, BA

机构：

[1] ERASMUS UNIV ROTTERDAM,MGC DEPT CLIN GENET,NL-3000 DR ROTTERDAM,NETHERLANDS

[2] UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,NL-6500 HB NIJMEGEN,NETHERLANDS

[3] UNIV NIJMEGEN HOSP,DEPT MED STAT,NL-6500 HB NIJMEGEN,NETHERLANDS

来源：

HUMAN GENETICS | 1997年 / 99卷 / 03期

关键词：

D O I：

10.1007/s004390050363

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from normal individuals and fragile X patients. The diagnostic power of the antibody test is ''perfect'' for males, whereas the results are less specific for females.

引用

页码：308 / 311

页数：4

共 16 条

[1]

DEGRAAFF E, 1995, AM J HUM GENET, V57, P609

[2] THE FMR-1 PROTEIN IS CYTOPLASMIC, MOST ABUNDANT IN NEURONS AND APPEARS NORMAL IN CARRIERS OF A FRAGILE X PREMUTATION [J].