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Biochemical Genetics (v.49, #1-2)

PON1 55 and 192 Gene Polymorphisms in Type 2 Diabetes Mellitus Patients in a Turkish Population by Mehmet Ali Ergun; Erkan Yurtcu; Huseyin Demirci; Mustafa N. Ilhan; Vahit Barkar; Ilhan Yetkin; Adnan Menevse (pp. 1-8).

Diabetes mellitus is a multifactorial metabolic disease, caused by the complete or relative absence of insulin hormone, which results in the deterioration of carbohydrate, protein, and lipid metabolism. The PON1 55 and 192 polymorphisms have been reported to be associated with type 2 diabetes and its complications. In this study, the involvement of the PON1 55 and 192 polymorphisms and paraoxonase enzyme activity in diabetic complications was assessed. The MM and QQ genotypes were the most frequent in complications of type 2 diabetes in both of the polymorphisms. PON enzyme activity was lower in the type 2 diabetes group with respect to the control group. Regarding both genotypes and enzyme activity, correlations were found between the PON1 55 and 192 genotypes and diabetic complications. This study thus helps to outline a genotype–phenotype relation for the PON1 gene in a Turkish population.

Keywords: PON1 55 ; PON1 192 ; Diabetes mellitus; Polymorphism

Polymorphism in Exons of the Myostatin Gene and Its Relationship with Body Weight Traits in the Bian Chicken by Genxi Zhang; Fuxiang Ding; Jinyu Wang; Guojun Dai; Kaizhou Xie; Lijun Zhang; Wei Wang; Shenghua Zhou (pp. 9-19).

In our research, single nucleotide polymorphisms (SNPs) of exon regions of the myostatin gene were detected by PCR–SSCP in the Bian chicken and three reference chicken populations (Jinghai, Youxi, and Arbor Acre). Four novel SNPs (G2283A, C7552T, C7638T, and T7661A) were detected. The findings from the least square means showed that Bian chickens with EE and DE genotypes had significantly higher body weight, at 6–18 weeks of age, than those of the DD genotype (P < 0.05). The results suggest that the mutation G2283A, detected in exon 1, has potential as a genetic marker for body weight traits in the Bian chicken.

Keywords: Bian chicken; Myostatin gene; SSCP; Body weight

Sequence Variation and Secondary Structure Analysis of the First Ribosomal Internal Transcribed Spacer (ITS-1) Between Cyprinus carpio carpio and C. carpio haematopterus by Jian Zhu; Li-qiang Zhong; Cheng-feng Zhang; Hong Liu; Bing Li (pp. 20-24).

Characterization, Genetic Diversity, and Evolutionary Link of Cucumber mosaic virus Strain New Delhi from India by Vikas Koundal; Qazi Mohd. Rizwanul Haq.; Shelly Praveen (pp. 25-38).

The genome of Cucumber mosaic virus New Delhi strain (CMV-ND) from India, obtained from tomato, was completely sequenced and compared with full genome sequences of 14 known CMV strains from subgroups I and II, for their genetic diversity. Sequence analysis suggests CMV-ND shares maximum sequence identity at the nucleotide level with a CMV strain from Taiwan. Among all 15 strains of CMV, the encoded protein 2b is least conserved, whereas the coat protein (CP) is most conserved. Sequence identity values and phylogram results indicate that CMV-ND belongs to subgroup I. Based on the recombination detection program result, it appears that CMV is prone to recombination, and different RNA components of CMV-ND have evolved differently. Recombinational analysis of all 15 CMV strains detected maximum recombination breakpoints in RNA2; CP showed the least recombination sites.

Keywords: Cucumovirus ; Genome diversity; 2b; CMV-ND

Analysis of Genetic Variation at the Prolactin-RsaI (PRL-RsaI) Locus in Indian Native Cattle Breeds (Bos indicus) by M. Sodhi; M. Mukesh; B. P. Mishra; K. Parvesh; B. K. Joshi (pp. 39-45).

This study assessed the distribution pattern of allelic variants at the prolactin-RsaI locus in 23 Indian native cattle breeds (Bos indicus). PCR–RFLP genotyping of a 156 bp fragment of prolactin (PRL) in exon 3 revealed the predominance of the heterozygous AB genotype (mean frequency 0.58) irrespective of utility type (dairy, dual, draft), geographic region (northern, central, southern), and coat color (red, gray) of the breeds analyzed. The overall frequencies of homozygous AA (0.22) and BB (0.20) genotypes were in a similar range. The PRL ^A and PRL ^B alleles exhibited similar gene frequencies (means 0.52 and 0.48, respectively). The existing profile of the PRL-RsaI gene locus in a large set of Indian native cattle breeds was different from that of Bos taurus and cattle breeds of other countries, where either the BB genotype and PRL ^B allele or the AA genotype and PRL ^A allele have been reported to be more prevalent.

Keywords: Indian native cattle; Prolactin gene; Allelic variation; PCR–RFLP

Molecular Cloning and Expression Profile Analysis of Three Sunflower (Helianthus annuus) Diterpene Synthase Genes by Claudio Pugliesi; Marco Fambrini; Mariangela Salvini (pp. 46-62).

ent-Kaurene, a key precursor of gibberellins, is formed by the action of two diterpene synthases (diTPSs), ent-copalyl diphosphate synthase (CPS), and ent-kaurene synthase (KS). The full-length cDNAs of CPS- (HaCPS1L) and KS-like (HaKS2L and HaKS3L) genes were isolated from sunflower. The amino acid sequences of HaCPS1L, HaKS2L, and HaKS3L exhibit structural features and homology to diTPSs of several plant species involved in gibberellin biosynthesis. RT-PCR analysis indicates that the expression of all genes (HaCPS1L, HaKS2L, and HaKS3L) is highly regulated during growth and development. All three diTPSs are preferentially expressed in rapidly growing tissues. HaKS2L is expressed at a much lower level than the other two diTPS genes. During seed development, the high level of both HaCPS1L and HaKS3L transcripts correlated with the period of rapid growth of the embryo. The three diTPS genes are not subjected to feedback regulation by gibberellin activity.

Keywords: Helianthus annuus ; Gibberellin biosynthesis; ent-copalyl diphosphate synthase; ent-kaurene synthase

Sequence Analysis of the Lactoferrin Gene and Variation of g.7605C→T in 10 Chinese Indigenous Goat Breeds by Jing-Fen Kang; Xiang-Long Li; Hui-Qin Zheng; Rong-Yan Zhou; Lan-Hui Li; Hong-Yuan Zhao (pp. 63-72).

Much attention has been focused on the study of lactoferrin at the protein or nucleotide level in mice, humans, and cattle, but little is known about it in goats. The goat LF gene from 5′ UTR to exon 17 was amplified, and the variation of g.7605C→T in 10 Chinese indigenous goat breeds was analyzed. Among the three ruminant species (cattle, sheep, and goats), the intron–exon distribution pattern was similar, and all the exons had the same length, but the length of introns varied greatly due to insertions or deletions. The frequency of allele T at g.7605C→T (50.12%) was a little higher than that of allele C (49.88%), and the genotype distribution differed greatly between goat populations. The g.7605C→T site showed higher genetic diversity in goat populations. The genetic differentiation was 0.0783, and gene flow was 2.9433 among the 10 Chinese indigenous goat populations.

Keywords: Goat breeds; Lactoferrin gene; Structure; Variation

Lack of Association of the N-acetyltransferase NAT1*10 Allele with Prostate Cancer Incidence, Grade, or Stage Among Smokers in Finland by LaCreis R. Kidd; David W. Hein; Karen Woodson; Philip R. Taylor; Demetrius Albanes; Jarmo Virtamo; Joseph A. Tangrea (pp. 73-82).

Genetic variations in xenobiotic metabolizing genes can influence susceptibility to many environmentally induced cancers. Inheritance of the N-acetyltransferase 1 allele (NAT1*10), linked with increased metabolic activation of pro-carcinogens, is associated with an increased susceptibility to many cancers in which cigarette- or meat-derived carcinogens have been implicated in their etiology. The role of NAT1*10 in prostate cancer is under studied. Although cigarette smoking is not considered a risk factor for prostate cancer, a recent review suggests it may play a role in disease progression. Consequently, we examined the association of NAT1*10 with prostate cancer risk, grade, and stage among 400 Finnish male smokers using a case–control study design. Following genotyping of 206 patients and 196 healthy controls, our results do not support the role of NAT1*10 in relation to prostate cancer risk (OR = 1.28; 95% CI, 0.66–2.47), aggressive disease (OR = 0.58; 95% CI, 0.13–2.67), or advanced disease (OR = 1.19; 95% CI, 0.49–2.91).

Keywords: N-acetyltransferase 1; Prostate cancer; Disease progression; Arylamine carcinogens

Development and Characterization of RAPD and Microsatellite Markers for Genetic Variation Analysis in the Critically Endangered Yellow Catfish Horabagrus nigricollaris (Teleostei: Horabagridae) by P. M. Abdul Muneer; Remya Sivanandan; A. Gopalakrishnan; V. S. Basheer; K. K. Musammilu; A. G. Ponniah (pp. 83-95).

Random-amplified polymorphic DNA (RAPD) and microsatellite markers were developed and used for the analysis of genetic variability in the critically endangered yellow catfish Horabagrus nigricollaris, sampled from the Chalakkudy River, Kerala, India. Eight RAPD and five microsatellite markers were detected to genotype the species. In RAPD, the 73 fragments were 20.55% polymorphic, whereas 4 polymorphic loci (80%) were obtained in microsatellites. In microsatellites, the number of alleles across the 5 loci was 1–5, and the range of heterozygosity was 0.25–0.5. The mean observed number of alleles was 2.4, and the effective number was 1.775 per locus. The average heterozygosity across all investigated samples was 0.29, indicating a significant deficiency of heterozygotes in this species. RAPD and microsatellite methods report a low degree of gene diversity and lack of genetic heterogeneity in the population of H. nigricollaris, emphasizing the need for fishery management, conservation, and rehabilitation of this species.

Keywords: Horabagrus nigricollaris ; RAPD; Genetic variation; Microsatellites; Polymorphism

Plasma Total Nitric Oxide and Endothelial Constitutive Nitric Oxide Synthase (ecNOS) Gene Polymorphism: A Study in a South Indian Population by Priya Gururajan; Prema Gurumurthy; Dolice Victor; G. Srinivasa Nageswara Rao; R. Sai Babu; Arumugam Sarasa Bharati; K. M. Cherian (pp. 96-103).

In an analysis of the possible association of endothelial constitutive nitric oxide synthase (ecNOS) gene polymorphism and plasma nitric oxide levels in patients with acute coronary syndrome, we investigated 106 patients with the syndrome and 100 healthy controls. Genotype was determined using the polymerase chain reaction; plasma nitric oxide levels were found using ELISA. The genotype frequencies for the a/b polymorphism in the control group were 77% for bb, 19% for ab, and 4% for aa. In the patients, genotype frequencies were 55% bb, 34% ab, and 11% aa. The allele frequencies were 28% a and 72% b among the patients and 13% a and 87% b among control subjects. Our findings showed a significant association of the ecNOS gene polymorphism with acute coronary syndrome in the South Indian population.

Keywords: Nitric oxide; Nitric oxide synthase; Genotype; Acute coronary syndrome

Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry by Blanca Urzúa; Ana Ortega-Pinto; Irene Morales-Bozo; Gonzalo Rojas-Alcayaga; Víctor Cifuentes (pp. 104-121).

Amelogenesis imperfecta is a group of genetic conditions that affect the structure and clinical appearance of tooth enamel. The types (hypoplastic, hypocalcified, and hypomature) are correlated with defects in different stages of the process of enamel synthesis. Autosomal dominant, recessive, and X-linked types have been previously described. These disorders are considered clinically and genetically heterogeneous in etiology, involving a variety of genes, such as AMELX, ENAM, DLX3, FAM83H, MMP-20, KLK4, and WDR72. The mutations identified within these causal genes explain less than half of all cases of amelogenesis imperfecta. Most of the candidate and causal genes currently identified encode proteins involved in enamel synthesis. We think it is necessary to refocus the search for candidate genes using biochemical processes. This review provides theoretical evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a new candidate gene.

Keywords: Molecular genetics; Biochemistry; Amelogenesis; New candidate gene

Haplotype-Based Case–Control Study of the Human CYP11B2 Gene and Essential Hypertension in Yi and Hani Minorities of China by Bifeng Chen; Shengjie Nie; Zhaoping Yue; Weihua Shou; Chunjie Xiao (pp. 122-137).

This haplotype-based case–control study investigated whether the aldosterone synthase gene (CYP11B2) might be implicated in the pathogenesis of essential hypertension in Yi (226 individuals) and Hani (296 individuals) minorities of China. Four tag SNPs (rs4536, rs4545, rs3097, and rs3802230) and the K173R polymorphism were genotyped using the PCR-RFLP method. In the Hani minority, rs4536 was significantly associated with hypertension, after Bonferroni correction. H9 AGGC constructed by tag SNPs was significantly higher in hypertensives than in controls (P = 0.001). Further, we observed that haplotype AGGC remained significantly associated with male hypertension after adjustment for covariates (OR = 3.76, P = 0.002). In the Yi minority, it was found that the CYP11B2 gene was not significantly associated with hypertension. These results indicated that haplotype AGGC conferred an increased risk for hypertension in the Hani minority male. In addition, CYP11B2 may not be associated with hypertension in the Yi minority of China.

Keywords: CYP11B2 gene; Essential hypertension; Haplotype; Single nucleotide polymorphism; Tag SNP

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Biochemical Genetics (v.49, #1-2)

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Biochemical Genetics (v.49, #1-2)