. 2014; 31(3): 226-230 | DOI: 10.4274/Tjh.2013.0275 | |||
Çin’de Bir Hemofili B Ailesinde Faktör IX İntron 3 Mutasyonunun Tanımlaması ve Genetik AnaliziDong Hua Cao1, Xiao Li Liu2, Kai Mu3, Xiang Wei Ma1, Jing Li Sun1, Xiao Zhong Bai1, Chang Kun Lin2, Chun Lian Jin41Hospital Of Pla, Aristogenesis Center, Shenyang, China2Shenyang Women’s And Children’s Hospital, Assisted Reproductive Technology Laboratory, Shenyang, China 3Zibo Maternal And Child Health Hospital, Genetic Disease Laboratory, Zibo, China 4China Medical University, Department Of Medical Genetics, Shenyang, China AMAÇ: Hemofili B, X kromozomu üzerinde Xq27,1’e lokalize faktör IX genindeki koagülasyon defektleri nedeniyle oluşur. Hemofili B hastalarında yaygın moleküler heterojenite gösteren ve geniş bir dağılımı olan mutasyonlar tanımlanmıştır. Çalışmamız Çin’deki bir hemofili B ailesindeki patogenezi açığa kavuşturulmak için hemofili B’nin genetik analizi ve prenatal tanısını amaçlamıştır. Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in ChinaDong Hua Cao1, Xiao Li Liu2, Kai Mu3, Xiang Wei Ma1, Jing Li Sun1, Xiao Zhong Bai1, Chang Kun Lin2, Chun Lian Jin41Hospital Of Pla, Aristogenesis Center, Shenyang, China2Shenyang Women’s And Children’s Hospital, Assisted Reproductive Technology Laboratory, Shenyang, China 3Zibo Maternal And Child Health Hospital, Genetic Disease Laboratory, Zibo, China 4China Medical University, Department Of Medical Genetics, Shenyang, China OBJECTIVE: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients. Our study was aimed at genetic analysis and prenatal diagnosis of hemophilia B in order to further elucidate the pathogenesis of the hemophilia B pedigree in China. Dong Hua Cao, Xiao Li Liu, Kai Mu, Xiang Wei Ma, Jing Li Sun, Xiao Zhong Bai, Chang Kun Lin, Chun Lian Jin. Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China. . 2014; 31(3): 226-230 Sorumlu Yazar: Chun Lian Jin, China |
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