+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Carrier detection of Duchenne/Becker muscular dystrophy by using fluorescent linkage analysis in Taiwan



Carrier detection of Duchenne/Becker muscular dystrophy by using fluorescent linkage analysis in Taiwan



Acta Paediatrica Taiwanica 41(2): 69-74



The mutation analysis of Duchenne/Becker muscular dystrophy (DMD/BMD) is made difficult by the size and structure of the gene. The dystrophin gene deletion is responsible for 45-58% of DMD/BMD cases in Taiwan. For the others, who have no deletions, carrier detection was performed by DNA linkage analysis. To determine frequencies of each allele and heterozygosity of each short tandem repeats (STR) marker, we analyzed 50 unrelated Taiwanese males and 50 unrelated Taiwanese females unaffected by DMD/BMD using ten fluorescently labeled intragenic markers (these ten being located in 5' terminus, intron 1, 44, 45, 48, 49, 50, 55-57 and 3' untranslated region of the human dystrophin gene). The predicted heterozygosity frequency is 46.7-88.3% in our study population and these STR markers are quite informative for linkage analysis. Using these ten intragenic STR markers, we analyzed 14 DMD/BMD families with 62 family members for carrier detection. Our retrospective study of DMD/BMD families highlights the informative power of STR haplotyping. In summary, STR analysis using (CA)n repeats within the human dystrophin gene is well suited for routine use in clinical laboratories engaged in linkage studies for carrier detection and prenatal diagnosis in DMD/BMD families.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 010279643

Download citation: RISBibTeXText

PMID: 10927942


Related references

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. American Journal of Human Genetics 51(4): 721-729, 1992

Carrier detection and prenatal diagnosis of Duchenne/Becker muscular dystrophy (D/BMD) by DNA-analysis. Progress in Clinical and Biological Research 306: 51-67, 1989

Carrier detection of Duchenne/Becker muscular dystrophy via microsatellite markers analysis. European Journal of Human Genetics 7(SUPPL 1): 109, July, 1999

Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families. Annals of Human Genetics 62(Pt 6): 511-520, 1999

Carrier detection and microsatellite analysis of Duchenne and Becker muscular dystrophy in Spanish families. Prenatal Diagnosis 14(2): 123-130, 1994

Carrier detection of Duchenne/Becker muscular dystrophy in Chinese families by microsatellite analysis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21(3): 224-228, 2004

Detection of Duchenne/Becker muscular dystrophy carriers in a group of Iranian families by linkage analysis. Acta Medica Iranica 49(3): 142-148, 2011

High rates of carrier diagnosis and mutation detection in Duchenne/Becker muscular dystrophy by quantitative PCR analysis. Journal of Medical Genetics 36(SUPPL 1): S85, Sept, 1999

Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families. Investigacion Clinica 43(4): 239-254, 2003

Our experience in duchenne becker muscular dystrophy carrier detection. Giornale Italiano di Chimica Clinica 15(5): 317-322, 1990

Deletion screening, RFLPs and CA repeats analysis of Duchenne and Becker Muscular dystrophy for prenatal diagnosis and carrier detection in Iranian population. European Journal of Human Genetics 9(Supplement 1): P0629, 2001

Carrier detection in Duchenne and Becker muscular dystrophy Argentine families. Clinical Genetics 54(6): 503-511, 1998

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. British Medical Bulletin 45(3): 719-744, 1989

Carrier detection in duchenne and becker muscular dystrophy by quantitative multiplex pcr. American Journal of Human Genetics 49(4 SUPPL): 191, 1991

Carrier detection in families affected by Duchenne/Becker muscular dystrophy. Orvosi Hetilap 148(51): 2403-2409, 2007