Application of Fluorescence-PCR on CAG Repeats of
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RESEARCH ARTICELS
Application of Fluorescence-PCR on CAG Repeats of Spinocerebellar Ataxias TypeI, Type II and Type III Gene Studying*
Miao Jiang1, 2 **, Yunqing Li3, Chunlian Jing1, Weitian Han2, Changkun Lin1, Guangrong Qin1,Zonglan Liu4, Xuefang Yang2, Kailai Sun1
Abstract: To investigate the normal range of (CAG)n in SCA1, SCA2 and SCA3/MJD gene of Han population of Northeastern of China, we assessed the genotypes that clinically were diagnosed SCA individuals including 25 patients from 8 families and 6 sporadics, so as to make presymptomatic diagnosis. DNA fragments from healthy people were detected by fluorescence-PCR, homozygosity were selected for DNA sequencing. The results are following, the normal range of (CAG)n of SCA1, SCA2 and SCA3/MJD were 20-39, 15-29 and 14-38 repeats respectively, SCA1 was mostly 26 and 27 repeats, allele frequence was 34.09% and 20.91%, heterozygosity was 84.55%, SCA2 was mostly 22 (49.55%) and 23 (25.91%), heterozygosity was 20.00%, SCA3/MJD was mostly 14 repeats, allele frequence was 39.55%, heterozygosity was 78.18%. (CAG)68 of SCA3/MJD gene of one affected individual had been found in a family, but no CAG mutative expansion in related members was observed. So we have some conclusions, the variation of CAG repeats is different in areas and races; SCAs genotyping is the first choice in presymptomatic and prenatal diagnosis; assessing the number of repeats exactly is the key to research spinocerebellar ataxia.
Key words: spinocerebellar ataxias type I (SCA1); spinocerebellar ataxias typeII(SCA2); spinocerebellar ataxias typeIII (SCA3/MJD); fluorescence-PCR; presymptomatic diagnosis
The autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous complex group of neurodegenerative disorders. They are charactered by neuronal loss affecting to varying extent, the cerebellum, and brain stem nuclei and spinocerebellar. These are severe diseases that lead to uncoordinated gait (ataxia) and dysarthria (such as opthalmopl-moplegia, decreased vibration sense, sphincter disturbances), difficulities in swallowing, and other clinical features may be presented in some patients. SCA1, SCA2 and SCA3/MJD are three high frequency subtypes that are caused by a CAG expansion mutation encoded polyglucamines; patients are delayed to adults with progressive aggravation. Repeats of CAG mutative expansion have negative correlation with age of onset, but positive with severity of the disease. Similar symptoms may appear when the repeats exceed certain critical value in any subtype. We applied Fluorescence-PCR to assess the repeats of CAG in SCA1, SCA2 and SCA3/MJD genes of Han population in northeastern of China.
MATERIALS AND METHODS
25 affectted members of 8 families with hereditary ataxia and 6 sporadics were Han population from northeast China, they were clinically examined and collected by Neural Department of First Affiliated Hospital of China Medical University, 110 control subjects were collected by Liaoning Research Institute for Family Planning, they are Han population from northeast China, too ......
RESEARCH ARTICELS
Application of Fluorescence-PCR on CAG Repeats of Spinocerebellar Ataxias TypeI, Type II and Type III Gene Studying*
Miao Jiang1, 2 **, Yunqing Li3, Chunlian Jing1, Weitian Han2, Changkun Lin1, Guangrong Qin1,Zonglan Liu4, Xuefang Yang2, Kailai Sun1
Abstract: To investigate the normal range of (CAG)n in SCA1, SCA2 and SCA3/MJD gene of Han population of Northeastern of China, we assessed the genotypes that clinically were diagnosed SCA individuals including 25 patients from 8 families and 6 sporadics, so as to make presymptomatic diagnosis. DNA fragments from healthy people were detected by fluorescence-PCR, homozygosity were selected for DNA sequencing. The results are following, the normal range of (CAG)n of SCA1, SCA2 and SCA3/MJD were 20-39, 15-29 and 14-38 repeats respectively, SCA1 was mostly 26 and 27 repeats, allele frequence was 34.09% and 20.91%, heterozygosity was 84.55%, SCA2 was mostly 22 (49.55%) and 23 (25.91%), heterozygosity was 20.00%, SCA3/MJD was mostly 14 repeats, allele frequence was 39.55%, heterozygosity was 78.18%. (CAG)68 of SCA3/MJD gene of one affected individual had been found in a family, but no CAG mutative expansion in related members was observed. So we have some conclusions, the variation of CAG repeats is different in areas and races; SCAs genotyping is the first choice in presymptomatic and prenatal diagnosis; assessing the number of repeats exactly is the key to research spinocerebellar ataxia.
Key words: spinocerebellar ataxias type I (SCA1); spinocerebellar ataxias typeII(SCA2); spinocerebellar ataxias typeIII (SCA3/MJD); fluorescence-PCR; presymptomatic diagnosis
The autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous complex group of neurodegenerative disorders. They are charactered by neuronal loss affecting to varying extent, the cerebellum, and brain stem nuclei and spinocerebellar. These are severe diseases that lead to uncoordinated gait (ataxia) and dysarthria (such as opthalmopl-moplegia, decreased vibration sense, sphincter disturbances), difficulities in swallowing, and other clinical features may be presented in some patients. SCA1, SCA2 and SCA3/MJD are three high frequency subtypes that are caused by a CAG expansion mutation encoded polyglucamines; patients are delayed to adults with progressive aggravation. Repeats of CAG mutative expansion have negative correlation with age of onset, but positive with severity of the disease. Similar symptoms may appear when the repeats exceed certain critical value in any subtype. We applied Fluorescence-PCR to assess the repeats of CAG in SCA1, SCA2 and SCA3/MJD genes of Han population in northeastern of China.
MATERIALS AND METHODS
25 affectted members of 8 families with hereditary ataxia and 6 sporadics were Han population from northeast China, they were clinically examined and collected by Neural Department of First Affiliated Hospital of China Medical University, 110 control subjects were collected by Liaoning Research Institute for Family Planning, they are Han population from northeast China, too ......
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