Human Genetics
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease
Authors: M. Oldani S. Marchi A. Giani S. Cecchin E. Rigoni A. Persi D. Podavini A. Guerrini A. Nervegna G. Staurenghi M. Bertelli
Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 add.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.October.9.3
- DOI:
- 10.4238/2012.October.9.3
Association of HTTLPR and 5-HT2A T102C polymorphisms with smoking characteristics and anthropometric profiles of Thai males
Authors: K. Suriyaprom B. Phonrat U. Chuensumran A. Tungtrongchitr R. Tungtrongchitr
Nicotine increases serotonin release in the brain. Gene polymorphisms in the serotonergic system have been suggested to be associated with smoking behavior. We investigated a possible association between two polymorphisms in the serotonergic system - HTTLPR of a serotonin transporter gene and 5-HT2Aat position T102C - with biochemical and anthropometric p.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.October.15.2
- DOI:
- 10.4238/2012.October.15.2
Polymorphism of the progesterone receptor gene associated with endometriosis in patients from Goi�¡s, Brazil
Authors: I.R. Costa, R.C.P.C. Silva, A.B. Frare, C.T.X. Silva, B.M. Bordin, S.R. Souza, C.L. Ribeiro J�ºnior and K.K.V.O. Moura
We investigated a possible link between endometriosis and polymorphism of the progesterone receptor gene (PROGINS). The endometriosis group consisted of 54 patients with a diagnosis of endometriosis by laparoscopy, and the control group comprised 44 women without endometriosis. Genotypes for PROGINS polymorphisms (A1/A1, A1/A2.. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr913
- DOI:
- 10.4238/vol10-3gmr913
The common CARD14 gene missense polymorphism rs11652075 (c.C2458T/p.Arg820Trp) is associated with psoriasis: a meta-analysis
Authors: G. Shi, S.J. Li, T.T. Wang, C.M. Cheng, Y.M. Fan and K.J. Zhu
Recent genetic evidence suggests a robust association of the CARD14 single nucleotide polymorphism rs11652075 (c.C2458T/p.Arg820Trp) and other rare mutations in this gene with psoriasis. To assess whether combined data support the relationship between CARD14 rs11652075 and susceptibility to this disease, we conducted a meta-analysis. PubMed (MEDLINE), EMB.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038357
- DOI:
- 10.4238/gmr.15038357
Genetic linkage analysis of oral lichen planus in a Chinese family
Authors: Z. Wang, H. Yao, B. Cui, G. Ning and G.Y. Tang
Oral lichen planus (OLP) is a common oral inflammatory disease affecting about 1-2% of the general adult population. As with European families who are diagnosed with OLP, the Chinese family who we studied was diagnosed with a severe form of oral reticular and erosive lesions; moreover, two of the five affected individuals deve.. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr1137
- DOI:
- 10.4238/vol10-3gmr1137
Expression of IL-1, IL-6, TNF-�±, and iNOS in pregnant women with periodontal disease
Authors: C.C.M. Otenio I. Fonseca M.F. Martins L.C. Ribeiro N.M.S.P. Assis A.P. Ferreira R.A. Ribeiro
Periodontal disease is one of the most prevalent oral diseases. An association between this disease and pregnancy has been suggested, but available findings are controversial. We evaluated the expression levels of interleukins (IL-1β and IL-6), tumor necrosis factor-alpha (TNF-α), and inducible nitric oxide synthase (iNOS) in pregnant women wit.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.September.20.3
- DOI:
- 10.4238/2012.September.20.3
Epstein-Barr virus DNA associated with gastric adenocarcinoma and adjacent non-cancerous mucosa in patients from Manaus, Brazil
Authors: P.F. de Aquino P.C. Carvalho J.S. da Gama Fischer A.Q.L. de Souza J.S. Viana S.R.S. Chalub A.D.L. de Souza M.G.C. Carvalho
Gastric cancer is one of most frequent causes of death in Brazil. The city of Manaus has one of the highest incidences of this disease in Brazil. The Epstein-Barr virus (EBV) is a ubiquitous herpesvirus that is classified as a group 1 carcinogen by the International Agency for Research on Cancer. We obtained biopsies from 6 control subjects and 10 patient.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.October.15.3
- DOI:
- 10.4238/2012.October.15.3
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism
Authors: S.C. Hu J. Ye A.K. Fathi X. Fu S. Huang Q. Ning X.P. Luo
We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongj.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.October.9.6
- DOI:
- 10.4238/2012.October.9.6
Polymorphisms of eNOS, catalase, and myeloperoxidase genes in prostate cancer in Turkish men: preliminary results
Authors: G.G. Ceylan, C. Ceylan, B. G�¼lmemmedo ��. Tonyal�±, O. Odaba�� A. G�¶zalan, �°. Kele�� and E. ��zt�¼rk
Prostate cancer (PCa) is the most common type of neoplasm in European males. Genetic and epigenetic factors contribute to PCa development and progression. In this study, we aimed to assess the relationship between PCa and polymorphisms in the genes encoding endothelial nitric oxide synthase (eNOS), catalase (CAT), and myeloperoxidase (MPO). In total, 193 .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038543
- DOI:
- 10.4238/gmr.15038543
Structure and polymorphism of 16 novel Y-STRs in Chinese Han Population
Authors: G.Q. Zhang S.Y. Yang L.L. Niu D.W. Guo
Y-chromosome short tandem repeats (Y-STRs) are useful tools for identifying paternity origin and male-female mixed samples because of their male-specificity, haploid inheritance and relatively simplicity. We focused on novel Y-STRs deposited in the human Genome database from DYS708 to DYS726. We typed 16 male-specific Y-STRs from males of a Chinese Han popul.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.October.11.1
- DOI:
- 10.4238/2012.October.11.1