[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion]

[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion] Research Abstract Details 

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[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion] Abstract Text:

Xiao-ping Zhao,Hui-jun Xie,Hui-ming Zheng,Zhi-liang Yu,Yi Cui,Su-ju Ding,Da-ming Ren,Guo-mei Tang,

OBJECTIVE: Two genetic loci are associated with the myotonic dystrophy (DM) phenotype: DM1 DMPK on chromosome 19, and DM2 ZNF9 on chromosome 3. The aim of this study was to investigate the molecular genetics of a pedigree with DM. METHODS: In twenty-six individuals from a family with DM, the CTG repeats in DMPK and CCTG repeats in ZNF9were evaluated genetically, using Long Expand trade mark Template polymerase chain reaction (PCR), Southern blotting and genomic scanning. RESULTS: The numbers of CTG and CCTG repeat were all in normal range. There was no significant difference between the CTG repeat size in DMPK gene and that 4 years later from the same individual. The Lod score values with short tandem repeats STR markers chosen in 19q and 3q were all smaller than 1, which suggested that no STR marker was linked with this DM family. CONCLUSION: There might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.

[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion] Publishing Authors By Initials

XP Zhao,HJ Xie,HM Zheng,ZL Yu,Y Cui,SJ Ding,DM Ren,GM Tang,

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[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion] Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yix

VOLUME: 21

Page Numbers: 459-62

Journal Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Z

ISSN: 1003-9406

DAY: 13

MONTH: Oct

YEAR: 2004

[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion] Information

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LANGUAGE: chi

NlmUniqueID: 9425197

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AFFILIATION: Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433 P.R. China. xiaopingzhao1@263.net

Country: China

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MEDLINETA: Zhonghua Yi Xue Yi Chuan Xue Z

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