Medical science monitor : international medical journal of experimental and clinical research · 2015
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Yuan Jing, Li Song, Xu YeYe, Cong Lin
Аннотация
BACKGROUND: Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV.
MATERIAL/METHODS: Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes.
RESULTS: Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region.
CONCLUSIONS: Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
MATERIAL/METHODS: Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes.
RESULTS: Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region.
CONCLUSIONS: Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
Предметные рубрики MeSH
Amino Acid SubstitutionBase SequenceCollagen Type ICollagen Type I, alpha 1 ChainDNADNA Mutational AnalysisExtracellular Matrix ProteinsFemaleGenetic TestingGenotypeHumansMaleMolecular ChaperonesMolecular Sequence DataMutation, MissenseOsteogenesis ImperfectaPedigreePregnancyPrenatal DiagnosisSilent Mutation