Prenatal diagnosis and family analysis of myotonic dystrophy
Objective By detecting the CTG trinucleotide repeat copy number in the myotonic dystrophin protein kinase(DMPK)gene in pregnant women with clinically suspected myotonic muscular dystrophy(DM)and her fetus in DM families,we can identify patients and suspected DM patients in DM families.Individual genetic diagnosis and prenatal testing provide scientific basis to confirm the necessity of prenatal diagnosis.Methods We used whole exon sequencing,mitochon-drial genome detection,PCR combined with capillary electrophoresis to detect the number of CTG trinucleotide repeat copies in the DMPK gene respectively in peripheral blood of suspected pregnant women in families with myotonic dystrophy,fetal amniotic fluid,and peripheral blood of pregnant women's sisters.Results Fetal WES results did not reveal de novo variants or compound heterozygous mutations for the composite phenotype,also did not detect clear or suspected pathogenic copy number variations(CNVs)in the subjects.The CTG repeat frequency of the DMPK allele in pregnant women,fetuses,and pregnant women's sisters is greater than 100,indicating a classical dynamic mutation.Conclusion Pregnant women with a family his-tory of DM genetics should undergo prenatal diagnosis in time to avoid the birth of children with DM and improve the quality of the population.
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