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Human Genetics

Human Genetics   Research Article

Genetic variations in microRNA genes and susceptibility to hepatocellular carcinoma

Authors: D. Li, J.J. Peng, Y. Tan, T. Chen, D. Wei, M. Du and T. Zhang

We conducted a hospital-based case-control study to investigate the effect of the miR-146aG>C and miR-499A>G polymorphisms on the risk of hepatocellular carcinoma (HCC) in a Chinese population. This study was 1:1 matched case-control study consisting of 184 HCC patients and 184 control subjects. miR-146aG>C and miR-499A>G polymorphisms were ge.. Read More»

Genet. Mol. Res. 14(1):
2015.March.20.2
DOI:
10.4238/2015.March.20.2
Human Genetics   Research Article

Pedigrees of infertile Chinese men with Y chromosome microdeletions derived from natural transmission and de novo mutation

Authors: L.L. Li, Y.Z. Zhu, X.W. Yu, R.X. Wang, Z.M. Hu and R.Z. Liu

Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. .. Read More»

Genet. Mol. Res. 14(1):
2015.March.20.3
DOI:
10.4238/2015.March.20.3
Human Genetics   Research Article

Transcription factor 7-like 2 polymorphisms and diabetic retinopathy: a systematic review

Authors: P. Sudchada and K. Scarpace

The global prevalence of type 2 diabetes mellitus (T2DM) has increased, as well as complications including diabetic retinopathy. Polymorphisms in transcription factor 7-like 2 (TCF7L2) have been associated with T2DM, with the strongest association attributed to the single-nucleotide polymorphism rs7903146. In this rev.. Read More»

Genet. Mol. Res. 13(3):
2014.August.7.1
DOI:
10.4238/2014.August.7.1
Human Genetics   Research Article

Genetic polymorphisms of cytochrome P450 enzymes 2C9 and 2C19 in a healthy Mongolian population in China

Authors: Z.F. Yang, H.W. Cui, T. Hasi, S.Q. Jia, M.L. Gong and X.L. Su

We examined the distribution of major allelic variants of CYP2C9 and CYP2C19 in the Mongolian population of China and compared it with that of other populations. The polymorphisms of CYP2C9 (including the CYP2C9*1, CYP2C9*2 and CYP2C9*3 alleles) and CYP2C19 (including the CYP2C19*1, CYP2C19*2 and CYP2C19*3 alleles) were analyz.. Read More»

Genet. Mol. Res. 9(3):
vol9-3gmr938
DOI:
10.4238/vol9-3gmr938
Human Genetics   Research Article

Interleukin-1B-31 gene polymorphism in Hakka gastric cancer patients in Guangdong, China

Authors: B. Qiu, H.-Y. Zou, Y.-H. Yang and C.-F. Lai

The aim of this study was to examine the interleukin-1B (IL-1B) gene promoter region -31 (IL-1B-31) polymorphism distribution characteristic of Hakka gastric cancer patients in Guangdong Province and to explore its association with gastric cancer. We used the 1:1 case-control method, matrix-assisted laser desorption ionization.. Read More»

Genet. Mol. Res. 13(3):
2014.August.7.2
DOI:
10.4238/2014.August.7.2
Human Genetics   Research Article

Remarkably low genetic variation but high population differentiation in the climbing perch, Anabas testudineus (Anabantidae), based on the mtDNA control region

Authors: A.F.J. Jamsari, Z.A. Muchlisin, M. Musri and M.N. Siti Azizah

Anabas testudineus (Anabantidae) is an important food fish in Southeast Asia. We analyzed the mitochondrial DNA control region sequence data to evaluate the genetic variability and population structure of this species. Sixty specimens were collected from four populations in Sumatra and two populations in Peninsular Malaysia. W.. Read More»

Genet. Mol. Res. 9(3):
vol9-3gmr933
DOI:
10.4238/vol9-3gmr933
Human Genetics   Research Article

Positive selection sites in tertiary structure of Leguminosae Chalcone isomerase 1

Authors: R.K. Wang, S.F. Zhan, T.J. Zhao, X.L. Zhou and C.E. Wang

Isoflavonoids and the related synthesis enzyme, chalcone isomerase 1 (CHI1), are unique in the Leguminosae, with diverse biological functions. Among the Leguminosae, the soybean is an important oil, protein crop, and model plant. In this study, we aimed to detect the generation pattern of Leguminosae CHI1. Genome-wide sequence analysis of CHI in 3 Legumin.. Read More»

Genet. Mol. Res. 14(1):
2015.March.20.5
DOI:
10.4238/2015.March.20.5
Human Genetics   Research Article

Effect of TIEG1 on apoptosis and expression of Bcl-2/Bax and Pten in leukemic cell lines

Authors: K. Yao, H.C. Xing , B. Wu, Y. Li , A.J. Liao, W. Yang and Z.G. Liu

We examined the effect of transforming growth factor-b inducible early gene-1 (TIEG1) on the apoptosis of leukemic cell lines and expression of B-cell lymphoma 2 (Bcl-2) and phosphatase and tensin homolog (Pten). Four leukemic cell lines (HL-60, U937, Raji, and K562) were treated with 0, 1, 5, 10, and 20 ng/mL TIEG1, respectively. The cell growth.. Read More»

Genet. Mol. Res. 14(1):
2015.March.20.6
DOI:
10.4238/2015.March.20.6
Human Genetics   Case Reports

Hemoglobin I-Philadelphia [alpha 16 (A14) LYS�GLU] heterozygote among blood donors from Brazil

Authors: F.R. Torres, L.S. Ondei, P.J.A. Zamaro, R.U. Silva, C.E. Cavasini, A.R.B. Rossit, R.L.D. Machado and C.R. Bonini-Domingos

We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS→GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of thi.. Read More»

Genet. Mol. Res. 5(4):
Human Genetics   Case Reports

Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal

Authors: F. Ashton, R. O�Connor, J.M. Love, E. Doherty, S. Aftimos, A. George and D.R. Love

Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conven.. Read More»

Genet. Mol. Res. 9(3):
vol9-3gmr896
DOI:
10.4238/vol9-3gmr896