Gene diagnosis for spinal muscular atrophy and its application study.
- Author:
Dong-hua CAO
1
;
Mei-hong REN
;
Chang-kun LIN
;
Wan-ting CUI
;
Hong-wei MA
;
Ying-yu WU
;
Chun-lian JIN
Author Information
- Publication Type:Journal Article
- MeSH: Child; Exons; genetics; Female; Gene Deletion; Genetic Counseling; Humans; Male; Muscular Atrophy, Spinal; diagnosis; genetics; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis; SMN Complex Proteins; genetics; Spinal Muscular Atrophies of Childhood; diagnosis; genetics; Survival of Motor Neuron 1 Protein; genetics
- From: Chinese Journal of Medical Genetics 2009;26(3):306-309
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).
METHODSTwenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.
RESULTSTwenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.
CONCLUSIONPCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.
