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한국인 듀센형 근디스트로피 가계에서의 보인지 진단을 위한 DNA 제한효소 단편 장다형에 관한 연구

Other Titles
 Analysis on restriction fragment length polymorphysms of Duchenne muscular dystrophy gene for the diagnosis of carrier in Koreans 
 송경순  ;  최종락  ;  이창훈  ;  박영숙  ;  강성웅  ;  문재호 
 Korean Journal of Clinical Pathology (대한임상병리학회지), Vol.16(5) : 760-770, 1996-05 
Journal Title
Korean Journal of Clinical Pathology(대한임상병리학회지)
Issue Date
Duchenne muscular dystrophy ; carrier diagnosis ; RFLP
Background : Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disease and cloned probes recognize genetic variations of restriction endonuclease sites (restriction fragment length polymorphisms (RFLPs)). These RFLPs may be inherited together with nearby genes and can be useful for the diagnosis of carrier.
Methods : We obtaind peripheral blood from unrelated individuals for the analysis of 51-78 X-chromsomes in number and from 27 members of seven DMD families. DNA was isolated from white blood cells and RFLP analysis were performed using PERT series of probes (87-1, 87-8, 87-15), which detects a BstNM, TaqI and XmnI RFLP, respectively. Allelic frequencies and heterozygosity rates were calculated to
assess the diagnostic usefulness and linkage analysis was performed to observe the informativeness in DMD families.
Results : The allele frequencies of three intragenic pERT probes were 0.49/0.51, 0.69/0.31 and 0.49/0.51 among 87-1/BstNI, 87´S// TagI, and 87-15/XmnI, respectively. Among the three polymorphic sites, calculated and observed heterozygosity rates of 87-1/BstNI and 87-15/Xmnl were higher than those of 87-8/Tags. The total informa¬tiveness in seven DMD families could be as high as 86% in our patient population.
Conclusions : By using three intragenic pERT probes, different genotypes could be determined and the heterozygosity was high enough to be effective in carrier diagnosis. The combined use of linkage analysis based on pERT RFLPs and deletion analysis by cDNA or rapid multiplex polymerase chain reaction can provide a improved method for carrier detection and prenatal diagnosis of DMD
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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