Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12

NYD-SP12 is a recently identified spermatogenesis-related gene with a pivotal role in human testis development. In this study, we analyzed between-species divergence and within-species variation of NYD-SP12 in seven representative primate species, four wo

Evolution of the DRD2 gene haplotype and its association with alcoholism in Mexican Americans

The human D2 dopamine receptor gene (DRD2) plays a central role in the neuromodulation of appetitive behaviors and is implicated in having a possible role in susceptibility to alcoholism. We genotyped an SNP in DRD2 Exon 8 in 251 nonalcoholic, unrelated, healthy controls and 200 alcoholic Mexican Americans. The DRD2 haplotypes were analyzed using the Exon 8 genotype in combination with five other SNP genotypes, which were obtained from our previous study. The ancestral origins of the DRD2 polymorphisms have been determined by sequencing the homologous region in other higher primates. Twenty DRD2 haplotypes, defined as H1 to H20 based on their frequency from high to low, were obtained in this major minority population. The ancestral haplotype "I-132-G-C-G-A1" and two one-step mutation haplotypes were absent in our study population. The haplotype H1, "I-B1-T-C-A-A1", with the highest frequency in the population, is a three-step mutation from the ancestral form. The first five or eight major haplotypes make up 87% or 95% of the entire population, respectively. The prevalence of the haplotype H1+ (H1/H1 and H1/Hn genotypes) is significantly higher in alcoholics and alcoholic subgroups, including early onset drinkers and benders, than in their respective control groups. The Promoter -141C allele is in linkage disequilibrium (LD) with five other loci in the nonalcoholic group, but not in the alcoholic group. All of the other five loci are in LD in both the alcoholic and control groups. The DRD2 TaqI B allele is in complete LD with the allele located in intron 6. Five SNPs, Promoter -141C, TaqI B (or Intron 6), Exon 7, Exon 8, and TaqI A, are sufficient to define the DRD2 haplotypes in Mexican Americans. Our data indicate that the DRD2 haplotypes are associated with alcoholism in Mexican Americans. (c) 2005 Elsevier Inc. All rights reserved.

Determination of urinary oxidative DNA damage marker 8-hydroxy-2 '-deoxyguanosine and the association with cigarette smoking

8-hydroxy-2'-deoxyguanosine (8OHdG) has been widely used as a biomarker of oxidative DNA damage in both animal models and human studies. To evaluate the effect of cigarette smoking on oxidative stress, we studied the levels of urinary 8OHdG from smokers and non-smokers and investigated the association with cigarette smoking. The urinary 8OHdG concentrations were determinated by capillary electrophoresis with end-column amprometric detection (CE-AD) after a single-step solid phase extraction (SPE), and then quantitatively expressed as a function of creatinine excretion. To increase the concentration sensitivity, a dynamic pH junction was used and the focusing effect was obvious when using 30 mM phosphate (pH 6.50) as sample matrix. The limit of detection is 4.3 nM (signal-to-noise ratio S/N = 3). The relative standard deviation (R.S.D.) was 1.1% for peak current, and 2.3% for migration time. Based on the selected CE-AD method, it was found that the mean value of urinary 8OHdG levels in the smokers significantly higher than that in non-smokers (31.4 +/- 18.9 nM versus 14.4 +/- 7.6 nM, P = 0.0004; 23.5 +/- 21.3 mug g(-1) creatinine versus 12.6 +/- 13.2 mug g(-1) creatinine, P = 0.028). (C) 2004 Elsevier B.V. All rights reserved.

Study of ion solvation and ion association in polymer gel electrolyte with polyethylene oxide-co-polypropylene oxide as a plasticizer

Using a molal conductance method, ion solvation and ion association in polytriethylene glycol dimethacrylate (PTREGD)-LiClO4 gel electrolytes with amorphous ethylene oxide-co-propylene oxide (EO-co-PO, <(M)over bar (n)>, = 1750) as the plasticizer were investigated. It was found that the fraction of solute existing as single ions (alpha(i)) and ion pairs (alpha(p)) decreases, while that of triple ions (alpha(t)) increases linearly with increasing salt concentration. The dependence of these fractions on molecular weight of plasticizer was also examined. It was shown that alpha(i) and alpha(t) increase and alpha(p) decreases with increasing molecular weight. The result of temperature dependence of these fractions was very interesting: when the temperature is lower than 55 degrees C, alpha(i) increases while alpha(p) and alpha(t) decrease with increasing temperature; however, when the temperature is higher than 55 degrees C, the reverse is true.

An investigation on ion solvation and ion association in a gel-type solid state polymer electrolyte

Ion salvation and ion association in polytriethylene glycol dimethacrylate (PTREGD)-LiClO4 gel-type polymer electrolytes were investigated. It was found that the fraction of solute existing as single ions (alpha(i)) decreases and that of triple ions (alpha(i)) increases linearly with increasing LiClO4 concentration, while for ion pairs, as the salt concentration increases, its fraction (alpha(p)) increases first and then falls down. The findings can be rationalized by the fact that the ionic conductance of the polymer electrolyte may be mainly contributed by triple ions and higher ionic aggregates with unequal numbers of positive and negative charges in the salt concentration range of practical significance, i.e. in the range of 0.5-1.5 mol/l. The temperature dependence of these fractions was also examined. In the case of tetraethylene glycol as the solvent, alpha(i) and alpha(p) increase as the temperature is raised, but alpha(t) decreases as the temperature increases from 25 degrees C to 85 degrees C. It seems that the increase of alpha(i) and alpha(p) results from the redissociation of triple ions at higher temperature, The same changing trend of those fractions is also observed when PEG(400) is used as the solvent.

The polymorphism of lysozyme gene in Zhikong scallop (Chlamys farreri) and its association with susceptibility/resistance to Listonella anguillarum

Lysozyme functions as a crucial biodefence effector against the infection of bacterial pathogens in innate immunity. The nucleotide sequence polymorphisms in promoter region of a nuclear goose type lysozyme gene from Zhikong scallop Chlamys farreri (designated as CFLysG) were investigated to explore their association with susceptibility/resistance to Listonella anguillarum infection. Eight sites of single nucleotide polymorphisms (SNPs) and two sites of insert-deletion (ins-del) polymorphisms were identified in the promoter region of CFLysG. Two of them, -753 TATCTCGATCAGG ins-del polymorphism and -391 A-G SNP were selected to analyze their distribution in the susceptible and resistant stocks, which were identified according to the survival time after L. anguillarum challenge. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), two genotypes were found at each site, which were ins/del and ins/ins at locus -753, and A/A and A/G at locus -391, respectively. The -753 ins/del genotype was more prevalent in the resistant stock than that in the susceptible stock, 30% vs 16.67% in frequency, but there was no significant difference in the frequency distribution between these two stocks (P=0.15). In contrast, the frequency of -391A/G genotype in the resistant stock was significantly higher (30%) than that in the susceptible stock (7.14%) (P=0.007), indicating a significant association with the resistance of Zhikong scallop to L anguillarum. To confirm the presumption, another independent challenge experiment was performed, in which the cumulative mortality of scallops with -391 A/A genotype (96.8%) was significantly higher than those with -391 A/G genotype (64.5%) (P=0.001), which further validate the association between -391 A/G genotype and the resistance of Zhikong scallop to L anguillarum. These results suggested that the -391 A/G could be a potential marker applied in future selection of Zhikong scallop with enhanced resistance to L anguillarum. (C) 2008 Elsevier Ltd. All rights reserved.