Yazan: admin Tarih: Nis 29th, 2009 | Kategori::
KategorilenmemiÅŸ
Neuromolecular Med. 2009 Apr 19.
Department of Medical Biology, Faculty of Medicine, Suleyman Demirel University, 32260 Cunur, Isparta, Turkey, nilufersahin@yahoo.com.
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes. It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2. To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins. Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5′-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.
Yazan: admin Tarih: AÄŸu 14th, 2008 | Kategori::
Breast cancer(Göğüs kanseri)
Anticancer Res. 2004 Jul-Aug;24(4):2547-9.
Sevinç A,
Yannoukakos D,
Konstantopoulou I,
Manguoglu E,
Lüleci G,
Colak T,
Akyerli C,
Colakoglu G,
Tez M,
Sayek I,
Gerassimos V,
Nasioulas G,
Papadopoulou E,
Florentin L,
Kontogianni E,
Bozkurt B,
Kocabas NA,
Karakaya AE,
Yulug IG,
Ozçelik T.
Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
BACKGROUND: The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought to investigate whether the RNASEL G1385A variant is a risk factor for breast cancer. PATIENTS AND METHODS: A total of 453 breast cancer patients and 382 age- and sex-matched controls from Greece and Turkey were analyzed. Genotyping for the RNASEL G1385A variant was performed using an Amplification Refractory Mutation System (ARMS). RESULTS: Statistical evaluation of the RNASEL G1385A genotype distribution among breast cancer patients and controls revealed no significant association between the presence of the risk genotype and the occurrence of breast cancer. CONCLUSION: Although an increasing number of studies report an association between the RNASEL G1385A variant and prostate cancer risk; this variant does not appear to be implicated in the development of breast cancer.
