Significant alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology
作者单位：Department of Reproductive EndocrinologyWomen's HospitalZhejiang University School of Medicine Key Laboratory of Reproductive GeneticsNational Ministry of Education(Zhejiang University)Women's Reproductive Healthy Laboratory of Zhejiang Province
会议名称：《第十二次全国医学遗传学学术会议》
会议日期：2013年
学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学]
关 键 词：assisted reproductive technology offspring dynamic mutation trinucleotide repeat
摘 要：Background This study investigates possible changes in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology(ART) in comparison with matched controls from spontaneous *** A prospective clinical observational study was performed on two hundred and forty-six families recruited from the in vitro fertilisation centre at a tertiary-care,university-affiliated,teaching ***,peripheral and umbilical cord blood samples were collected and the trinucleotide repeat dynamic mutation genes of ATN1,AR,ATXN1,ATXN3,Huntington,DMPK and FMR-1 were investigated between *** frequencies and sizes of the mutational repeats of intergenerational instability were *** A total of 2,466 transmissions were identified in ART offspring,with 2.11%(n=52/2,466) of alleles being unstable upon transmission. In the control group,the frequency of dynamic mutation was 0.77%(n=10/1,300).Stati 0.05).The repeat copy numbers of examined genes in all parents and their babies were found to be within the normal *** Our results illustrated that more significant alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through *** studies determining the factors that influence instability of genome in ART procedure are urgently needed.