Carrier Detection in Female Relatives of DMD/BMD Patients
Carrier Detection in Female Relatives of DMD/BMD Patients
Background: Duchenne Muscular Dystrophy (DMD) is one of most common and severe neuromuscular disease in men. It is an X-linked genetic disorder of muscle, which affects about 1 in 3500 male’s birth. Carrier detection is one of great importance for families with one or more sons affected with Duchenne Muscular Dystrophy or Becker Muscular Dystrophy (DMD/BMD). The aim of this study was to determine the carrier status of female relatives in south eastern of Turkey families at high risk and families having a child affected with DMD/BMD. Method: The 66 female of relatives of DMD/BMD males were screened by Restriction Fragment Length Polymorphism (RFLP) using four intragenic probes. Results: This study indicated that 70 % of all relatives at risk were heterozygous for at least one of these intragenic RFLP, detected by PCR-RFLP. Conclusion: Marriage All these results provide useful information for DMD/BMD carrier status among female relatives of the patients for genetic counseling for South east of Turkey
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- Emery AEH. Differential diagnosis In: Emery AEH, ed Duchenne muscular dystrophy. Oxford: Oxford University Press: 1987;71-91
- Monaco AP, Kunkel LM. A giant locus for the Duchenne and Becker muscular dystrophy gene. Trends Genet 1987;3:33-37
- Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2:731–740
- Hoffman RP Brown RH, Kunkel LM. Dystrophin the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51: 917-928
- Boyd Y, Buckle VJ. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet 1986;29:108
- Koeing M, Hoffman E.P, Bertelson J, Monaco A.P, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and Preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517
- Cole GC, Coyne A, Hart KA, Sheridan R, Walker A, Johnson L, Hodgson S, Bobrow M. Prenatal testing for Duchenne and Becker muscular dystrophy. The Lancet February 1988;6:262-265
- Roberts RG, Cole CG, Hart KA, Bobrow M, Bentley DR. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucleic Acids Research 1989;17:811
- Poncz M, Solowiejczky, D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amount of peripheral blood. Haemoglobin 1982;6:27-36
- Miller M, Dykes DD, Polsesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;18:1215
- Abbs S, Bobrow M. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 1992;29:191-196
- ISSN: 2146-6033
- Yayın Aralığı: Yılda 2 Sayı
- Başlangıç: 2011
- Yayıncı: Veysi AKPOLAT
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