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Human Genetics

Human Genetics   Research Article

Relationship between the cholesterol ester transfer protein TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease

Authors: J. Li, L. Zhang, N.Z. Xie, B. Deng2, L.X. Lv and L.Q. Zheng

This study aimed to investigate the relationship between the cholesterol ester transfer protein (CETP) gene TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease. Two hundred eighty-eight patients were divided into a control group, an acute coronary syndrome (A.. Read More»

Genet. Mol. Res. 13(1):
2014.March.24.21
DOI:
10.4238/2014.March.24.21
Human Genetics   Research Article

Association of variable number of tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in Malaysian patients

Authors: R. Vasudevan, M.N. Norhasniza and I. Patimah

Variable number of tandem repeats (VNTR) polymorphism in the interleukin 4 (IL-4) gene has been associated with end-stage renal disease (ESRD) subjects in many different populations, although with conflicting results. We determined the 70 bp of VNTR polymorphism at intron 3 of the IL-4 gene in Malaysian ESRD subjects. Buccal c.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1066
DOI:
10.4238/vol10-2gmr1066
Human Genetics   Research Article

Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia

Authors: P.Y. Chang, X.G. Zhang and X.L. Su

Abnormalities in renal sodium chloride and water reabsorption play important roles in the development of hypertension. Mutations in the genes involved in renal sodium chloride reabsorption can affect blood pressure. Recently, the R904Q variant of the sodium/chloride transporters, member 3 (SLC12A3) gene and the T481S variant o.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1165
DOI:
10.4238/vol10-2gmr1165
Human Genetics   Research Article

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia

Authors: L.H. Cao, L.B. Wang, S.S. Wang, H.W. Ma, C.Y. Ji and Y. Luo

Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked for mutations in the COMP gene in three sporad.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1111
DOI:
10.4238/vol10-2gmr1111
Human Genetics   Research Article

Genetic analysis of 30 InDel markers for forensic use in five different Chinese populations

Authors: C.T. Li, S.H. Zhang and S.M. Zhao

Allele frequencies of 30 insertion/deletion polymorphism (InDel) markers previously selected and validated for forensic purposes were assessed in 419 unrelated individuals originating from five different populations of P.R. China, including Chinese Han, Chinese Hui, Uighur, Mongolians, and Tibetans. Hardy-Weinberg equilibrium .. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1082
DOI:
10.4238/vol10-2gmr1082
Human Genetics   Research Article

H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients

Authors: S. Jiang, F.L. Li, Q. Dong, H.W. Liu, C.F. Fang, C. Shu, H. Cheng, J. Cui, H.X. Ma, D.Q. Chen, H. Li

Keshan disease (KSD), a potentially fatal cardiomyopathy, has very high incidence in some selenium-poor regions of China. KSD may be accompanied with a variety of arrhythmia, which is associated with mutations in the gene coding for cardiac voltage-gated sodium channel (SCN5A). The molecular mechanism of KSD is still .. Read More»

Genet. Mol. Res. 13(3):
2014.August.28.1
DOI:
10.4238/2014.August.28.1
Human Genetics   Research Article

Chromosomal localization and partial sequencing of the 18S and 28S ribosomal genes from Bradysia hygida (Diptera: Sciaridae)

Authors: V.P. Gaspar, E.L.T. Shimauti and M.A. Fernandez

In insects, ribosomal genes are usually detected in sex chromosomes, but have also or only been detected in autosomal chromosomes in some cases. Previous results from our research group indicated that in Bradysia hygida, nucleolus organizer regions were associated with heterochromatic regions of the autosomal C chromosome, usi.. Read More»

Genet. Mol. Res. 13(1):
2014.March.26.6
DOI:
10.4238/2014.March.26.6
Human Genetics   Research Article

Changes in the expression of FoxO1 and death ligand genes during follicular atresia in porcine ovary

Authors: F. Lin, Y.H. Fu, J. Han, M. Shen, C.W. Du, R. Li, X.S. Ma and H.L. Liu

Follicular atresia, a key phenomenon in follicle development, eliminates most of the follicles in mammalian ovaries. To investigate the molecular mechanism of follicular atresia in porcine ovaries, we investigated the mRNA expression of three important cell death ligand-receptor systems and Fox O1 in follicles with a diameter .. Read More»

Genet. Mol. Res. 13(3):
2014.August.28.8
DOI:
10.4238/2014.August.28.8
Human Genetics   Research Article

Human chorionic gonadotropin promotes expression of protein absorption factors in the intestine of goldfish (Carassius auratus)

Authors: Y. Zhou, G. Hao, H. Zhong, Q. Wu, S.Q. Lu, Q. Zhao and Z. Liu

Protein use is crucial for the ovulation and spawning of fish. Currently, limited information is available regarding the expression of protein absorption factors during the breeding seasons of teleosts and thus how various proteins involved in this process is not well-understood. The expression of CDX2, CREB, gluatamate dehydrogenase, LAT2, aminopeptidase.. Read More»

Genet. Mol. Res. 14(3):
2015.July.27.19
DOI:
10.4238/2015.July.27.19
Human Genetics   Research Article

Association between methionine synthase reductase A66G polymorphism and primary infertility in Chinese males

Authors: X.Y. Li, J.Z. Ye, X.P. Ding, X.H. Zhang, T.J. Ma, R. Zhong and H.Y. Ren

We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. This case-control study included 162 infertile Chinese patients with azoospermia (N = 100) or oligoasthe.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.15.13
DOI:
http://dx.doi.org/10.4238/2015.April.15.13