Application Of MLPA In Molecular And Prenatal Diagnosis Of Ducheime Muscular Dystrophy

Objective:Duchenne muscular dystrophy(DMD)is also called pseudo large muscular dystrophy,associated with group of x-linked recessive hereditary disease;caused by mutation in the gene for the protein dystrophin.It’s one of the most serious and fatal neuromuscular disease.At present,there is no cure for DMD.So,it is very important to make genetic diagnosis of DMD patients and carriers,for prenatal diagnosis of the high risk fetus.We used multiple link dependent probe amplification(MLPA)technology in this study,to screen the related genes of family and genetic diagnosis and prenatal diagnosis in the DMD.We also explore the potential application value of MLPA in the prenatal diagnosis of dystrophy to reduce the birth of the sick child and improve the quality of the birth population.Methods:The total of 3 DMD families(10 cases)from the prenatal diagnosis and genetic diagnosis center at First Affiliated Hospital of Guangxi Medical University were collected.We got the peripheral blood of the children and their mother and the amniotic fluid at 18-22 weeks of gestation in the present pregnancy.We used extraction kit of TIANGEN blood;cell genome DNA to extract genomic DNA from peripheral blood and DNA of amniotic fluid cells where the MLPA was used to detect the expression of DMD pathogenicity gene.Results:Among three DMD families,the proband of family I had homozygous deletion of the DMD exon 49-50,and the mother of family I belongs to heterozygous deletion of DMD exon 49-50.The proband of family II first and second are both homozygous deletion of DMD exon 45-47.the mother of family II belongs to heterozygous deletion of DMD exon 45-47.he proband of family III had the heterozygous deletion of DMD exons 45-52,the mother of family III belongs to heterozygous deletion of DMD exon 45-52.The prenatal diagnosis of fetal amniotic fluid karyotype analysis of three families showed normal result;the family I fetus was male and the number of DMD exons was normal with normal fetus.The family II fetus had homozygous deletion of exon 45-47 of DMD with a male patient.The family III fetus was female,the number of exons of DMD was normal with normal fetus.After the genetic counseling,the fetus of family I and III was normal and can continue the pregnancy.The fetus of the second family was a patient.After the consultation of risks of fetal disease,the parents decided to terminate the pregnancy.Conclusion:MLPA is a new technology that can qualitatively and quantitatively analyze the target sequence of nucleic acid target sequence.It can be used to screen all DMD exons at one time;for repeated and missing mutations.With this technique,the genetic diagnosis and prenatal diagnosis of DMD family are more convenient and reliable.