Hos Geldiniz

Nisan 2009 için arsiv

Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation).

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: KategorilenmemiÅŸ

Neuromolecular Med. 2009 Apr 19.

Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N.

of Medical , Faculty of , Suleyman Demirel , 32260 Cunur, Isparta, , nilufersahin@yahoo.com.

Mutations in the ganglioside-induced differentiation-associated protein 1 (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 identified in a five generation Turkish family with autosomal recessive CMT2.


1 Yorum Yapilmis

Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: CAPN10, SERPINE1

J Assist Reprod Genet. 2009 Apr 22.

Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, Cinaz P, Menevse A.

of Medical and , Faculty of , Gazi , Besevler, 6500, Ankara, .

BACKGROUND: Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls. METHODS: samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (-34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. Genotyping of exon 12 (six polymorphisms) and intron 12 (one ) of INSR by direct sequencing was performed for the first time in this study. RESULTS: No significant differences were observed in the genotype and allele distributions of above mentioned polymorphisms between cases and control groups. CONCLUSION: Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls.


Ilk Yorumu Sen Yap →

Melanocortin-4 receptor gene polymorphisms in obese patients.

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: Melanocortin-4 Receptor

Biochem Genet. 2009 Apr;47(3-4):295-300.

Yurtcu E, Yilmaz A, Ozkurt Z, Kolukisa E, Yilmaz M, Keles H, Ergun MA, Yetkin I, Menevse A.

of Medical and , Gazi Faculty of , Besevler, Ankara, . erkan_yurtcu@yahoo.com

Obesity is a complex disease caused by both and environmental factors. Melanocortin-4 receptor (MC4R) (MIM 155541) polymorphisms were reported to be the cause of monogenic obesity in humans. We studied three polymorphisms (Val50Met, Val103Ile, and Ser58Cys) and a mutation (Asn274Ser) of the MC4R in 203 obese patients and in 110 healthy subjects in the Turkish . A high incidence of Val103Ile and Val50Met polymorphisms as well as the Asn274Ser mutation was found in the obese patients, whereas no significant correlation was found regarding the Ser58Cys . We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish with obesity.


Ilk Yorumu Sen Yap →