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Significant alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology

Significant alterations in the frequency of trinucleotide re...

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第十二次全国医学遗传学学术会议

作者： Ying-Ming Zheng Li Li Kai Yan Song-Chang Chen Chen-Ming Xu Fan Jin Department of Reproductive Endocrinology Women's HospitalZhejiang University School of Medicine Key Laboratory of Reproductive Genetics National Ministry of Education(Zhejiang University)Women's Reproductive Healthy Laboratory of Zhejiang Province

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 repeats,the rates of expansion or the rates of contraction among the three groups(P>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.

关键词： assisted reproductive technology offspring dynamic mutation trinucleotide repeat

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Alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology

Alterations in the frequency of trinucleotide repeat dynamic...

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2013浙江省医学遗传学学术年会

作者： Ying-Ming Zheng Li Li Pei-Pei Pan Fang Le Yi-Yun Lou Kai Yan Le-Jun Li Li-Ya Wang Shu-Yuan Liu Xin-Yun Yang Min-Hao Hu Song-Chang Chen Chen-Ming Xu Fan Jin Department of Reproductive Endocrinology Women's HospitalZhejiang University School of Medicine Key Laboratory of Reproductive Genetics National Ministry of Education(Zhejiang University)Women's Reproductive Healthy Laboratory of Zhejiang Province

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 pregnancies. Methods: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 hospital. Parental,peripheral and umbilical cord blood samples were collected and the trinucleotide repeat dynamic mutation genes of ATNl,AR,ATXNl,ATXN3,Huntington,DMPK and FMR-1 were investigated between *** frequencies and sizes of the mutational repeats of intergenerational instability were measured. Results:A total of 2,466 transmissions were identified in ART offspring,with 2.11%(n=52/2,466) of alleles being unstable upon *** the control group,the frequency of dynamic mutation was 0.77% (n=10/l,300).Statistical significance was found between the ART group and the control group(P repeats,the rates of expansion or the rates of contraction among the three groups(P>0.05).The repeat copy numbers of examined genes in all parents and their babies were found to be within the normal ranges. Conclusions: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.

关键词： assisted reproductive technology offspring dynamic mutation trinucleotide repeat

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DNA analysis of a pedigree with Myotonic Dystrophy in Songiang county Shanghai

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中国临床神经科学 2000年第Z1期8卷 88-页

作者： Hui-Min Zheng Hui-jun Xie She Qing Zhang Dept. Of Neurology Changhai Hospital The Second Military Medical University Shanghai200433 Dept. Of Neurology Changhai Hospital The Second Military Medical University Shanghai200433 Dept. Of Neurology Changhai Hospital The Second Military Medical University Shanghai200433

Objective To make the molecular analysis of a pedigree with myotonic dystrophy (DM) in Songjiang county Shanghai China, and to observe the connection between CTG trinucleotide repeat number and clinical features in a pedigreee with DM. Beckground Previous reports of CTG repeat numbers in a pedigree with DM was less in China. The study showed normal and expanded CTG repeat numbers in a Chinese patients with DM. Methods CTG trinucleotide repeat numbers were analyzed by using Long Expand TM Template PCR system. Results Four of eight clinical patients had expanded DM allele, the other four had no expanded CTG copies. Seven of eight suspicious DM cases had expanded CTG repeat numbers and were therefore genetically diagnosed DM, and an asymptomatic individual was dianosed a doubted DM patient by DNA analysis. High risk of DM in six of seven individuals was ruled out, and a clinical doubted DM individual was ascertained a normal person by molecular analysis. A positive correlation was found between early onset and expanded CTG repeat number in six parent(or grandparent)/child pairs, but in the pair No Ⅱ2/NoⅣ7 CTG repeat numbers were reduced from 3100 in the grandmother to 175 in her grandson and there was no anticipation phenomenon. Discussion it is possible that these patients represent a form of allelic heterogeneity for DM. Conclusion The measurement of CTG repeat number can help to ascertain the diagnosis of DM.

关键词： trinucleotide repeat molecular analysis myotonic dystrophy clinical features Chinese patients diagnosis of early onset form of

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