Studies on the molecular diagnosis and prenatal diagnosis of the spinal muscular atrophy carriers by multiplex ligation-dependent probe.
- Author:
Haiyan ZHU
1
;
Yali HU
;
Jie LI
;
Ying YANG
;
Xing WU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amplified Fragment Length Polymorphism Analysis; Exons; Female; Genetic Carrier Screening; Heterozygote; Humans; Ligase Chain Reaction; methods; Male; Muscular Atrophy, Spinal; diagnosis; genetics; Pedigree; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis; methods; Sequence Deletion; Survival of Motor Neuron 1 Protein; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2010;27(1):38-41
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the application of the multiplex ligation-dependent probe amplification (MLPA) method in genetic and prenatal diagnosis for spinal muscular atrophy (SMA).
METHODSFour patients, 16 parents and 4 fetuses from 8 SMA pedigrees were included. MLPA was performed for molecular analysis, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for the mutation detection of the 4 patients.
RESULTSFor all the four patients, the same homozygous deletion of the exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, was detected by PCR-RFLP and MLPA. All fourteen parents from the 8 pedigrees were carriers of the SMN1 gene heterozygous deletion, except the mothers in pedigrees 1 and 4 in whom the mutations were different.
CONCLUSIONMLPA is a simple and efficient quantitative method for copy number analysis of the SMN genes. It can be used for the genetic diagnosis and prenatal diagnosis of the SMA patients and carriers.
