阿尔卑斯山黄花茅(Anthoxanthum alpinum)沿海拔梯度的基因频率分布

在瑞士阿尔卑斯山的2个定点样地,黄花茅从森林线（海拔1700 m）到山顶（海拔2830 m）呈连续分布。在海拔梯度样带的最高和最低定样场所间的垂直距离差不多为1000 m,但2个定样场所间相距仅仅1.4 km。在所研究的3个海拔梯度样带中,3个同工酶位点（Px_1, Got_2和 Mdh_1）被观察到有统计意义的倾群变异。研究结果显示：沿海拔梯度样带的亚居群间的基因流可能太弱不足以克服自然选择的影响,后者促使对局部环境的适应。在这种情况下,温度因子至少可能作为一种主要的自然选择力起作用。     

Gene frequency of ceruloplasmins in Swiss populations (North Swiss, Valais valley populations and Valais)

Coeruloplasmin has been studied on 3051 individuals from Swiss populations. The C*PA frequencies of 0.0050 reported for Northern Switzerland as well as for the Upper Rhone Valley (Brig, Goms) and the Visp Valleys (Valais) are in the range of those of other European populations. In the village of T?rbel and in the L?tschental (both Canton of Valais) the C*PA frequencies are somewhat lower. The individuals from the French speaking part of Valais showed only the C*PB allele. The fixation of the C*PB allele in the Walser of the Safiental (The Grisons) can be explained under the assumption of founder effect or of genetic drift. A new CP variant (C*PW) is described.     

Genetic polymorphism in the Karelian population]

Distribution of the genetic markers of blood groups (AB0, MNSs, Rhesus, P, Lewis, Duffy, Kell-Cellano, Kell-Kp, Kell-Sutter, Kidd, Lutheran); of serum proteins (Hp, Tf, Gc, C'3, Pi); red-cell enzymes (6-PGD, EsD, GLO, AcP, subtypes of PGM) was studied in Karels from the South part of Karelian ASSR. The results of comparison of Karels with the other finno-ugric peoples revealed peculiarities of gene pool in Karelian population.     

The adnylate kinase (AK)-groups in the Swiss population

Summary The distribution of the adenylate kinase groups was studied on blood samples obtained from 2270 Swiss individuals. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. The obtained gene frequencies were similar to those observed in other Caucasian populations (AK¹=0.957, AK²=0.043). In 335 mother/childpairs no theoretically impossible combinations were found. No significant difference was observed between the gene-frequencies of men and women. Among the blood samples investigated an unusual phenotype was found in one mother and her child.     

The phosphoglucomutase (PGM1)-groups in the Swiss population

Summary The distribution of the phosphoglucomutase(PGM₁)-groups was studied on blood samples obtained from 2638 Swiss adults. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. The obtained gene frequencies were similar to those observed in other Caucasian populations (PGM ₁ ¹ =0.7586, PGM ₁ ² =0.2414). In 942 mother/child pairs no theoretical impossible combinations were found. No significant difference was observed between the gene frequencies of men and of women. An unusual phenotype, probably 3-1, was found in blood samples from 3 unrelated adults (1 woman and 2 men). In addition 2 children (a child of the woman and a child of one of the men) were found to have this rare phenotype.

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Zusammenfassung An einem Untersuchungsgut von 2638 Blutproben von schweizerischen Erwachsenen wurde die Verteilung der Phosphoglucomutase(PGM₁)-Gruppen untersucht. Die gefundene Verteilung ist in ausgezeichneter Übereinstimmung mit dem Hardy-Weinberg-Gesetz. Die Frequenzen stimmen mit denen anderer kaukasischer Bevölkerungen überein (PGM ₁ ¹ =0,7586, PGM ₂ ¹ -0,2414). In 942 Mutter/Kind-Paaren wurden keine theoretisch unmögliche Kombination gefunden. Es bestand keine signifikante Differenz zwischen den Genfrequenzen von Frauen und Männern. Bei 3 nichtverwandten Personen (1 Frau, 2 Männer) wurde ein seltener Phänotyp (wahrscheinlich 3-1) beobachtet. Der gleiche Typ wurde bei 2 Kindern gefunden (eines war das Kind der Frau, das andere dasjenige von einem der Männer).

     

Use of DNA polymorphism detected by M13 phage DNA in population studies]

Hypervariable "minisatellite" regions detected in human genome by wild-type phage M13 DNA were found to have high polymorphism and somatic stability. Analysis of individual specific patterns of hybridization of 44 human DNAs from the Kirov province is presented. Molecular weight of fragments varied from 2 to 6 kb. Mean frequency of a fragment in the population under study is p = 0.294 +/- 0.158. The mean number of fragments per individual is 11.6 +/- 1.8. Comparison between the Kirov population and that of Krasnodar studied earlier was carried out. The mean genetic distance between Kirov and Krasnodar populations calculated according to Nei is 0.2082. The possibility of using in population-genetic studies of hypervariable DNA markers having fingerprint type of hybridization is discussed.     

Microsatellite polymorphism and population subdivision in natural populations of European sea bass Dicentrarchus labrax (Linnaeus, 1758)

Polymorphism of microsatellite markers was used to study the genetic variability and structure in natural populations of European sea bass Dicentrarchus labrax. The data consisted of six microsatellite loci analysed for 172 individuals from three samples collected in the Golfe-du-Lion (France) and one sample collected in the Golfo-de-Valencia (Spain). Our goals were (i) to assess the level of genetic variability as revealed by these markers, (ii) to estimate the genetic differentiation among natural populations within a restricted area, and (iii) to evaluate how microsatellite loci fit the predictions of the two most widely used mutation models (the infinite allele model and the stepwise mutation model). As expected, our results indicate that the genetic polymorphism is very high when compared with previously used genetic markers, the mean expected heterozygosity per locus ranging between 0.69 and 0.93. We also found that all loci but one fitted the infinite allele model better. Using this model as a lower limit, we could extrapolate from the observed diversity effective population sizes on the order of 35 000 individuals. Our results also suggest that there may be a slight genetic differentiation between the two gulfs (F_ST= 0.007, P < 0.05), indicating that the corresponding populations are likely to be dynamically independent. This finding for a species with high dispersal abilities, if confirmed, has important beatings on fish-stock assessment.     

CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies

The purpose of this study was to confirm previously reported associations of common variants in or near CDC7/TGFBR3, ZP4, SRBD1, ELOVL5, CAV1/CAV2, TLR4, CDKN2B, CDKN2B-AS1, ATOH7, PLXDC2, TMTC2, SIX1, and CARD10, with primary open angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. A total of 437 unrelated subjects from the Barbados Family Study of Open Angle Glaucoma (BFSG), including 272 with POAG and 165 unaffected individuals were included in this study. Eighteen SNPs were genotyped by using the multiplex SNaPshot method. Allelic, genotypic and model-based (dominant, recessive, and additive) associations of the SNPs with POAG were analyzed using Chi-squared tests and logistic regression. SNP rs1063192 (near CDKN2B) was found to be significantly associated with POAG (allelic P = 0.0008, genotypic P = 0.0029), and the minor allele C of rs1063192 was protective against POAG (OR = 0.39; 95%CI = 0.22-0.69). Suggestive association was also noted for rs7916697 (near ATHO7, allelic P = 0.0096, genotypic P = 0.01) with the minor allele being protective (OR = 0.67; 95% CI = 0.50-0.91), although this finding did not withstand correction for multiple testing. However, a significant interactive effect on POAG risk was identified between rs1063192 and rs7916697 (P-interaction = 2.80 × 10(-5)). Individuals with the rs1063192 protective genotype CC or CT and also rs7916697 genotypes GG or GA show a significantly decreased risk of POAG (OR = 0.17, 95%CI: 0.07-0.41). Our study confirms the significant association between SNP rs1063192 (CDKN2B, previously shown to influence vertical cup-to-disc ratio and POAG at 9p21) and POAG in the Afro-Caribbean population of Barbados. The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduce POAG risk. Our results also suggest that rs1063912 is a common protective variant for POAG in populations of African as well as European descent.     

Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13

Two series of somatic cell hybrids were made by fusion of human cells with karyotypes 46,X,t(X;2;15)(q22;p12;p12) and 46,XX,t(5;7)(q13;p15) and rodent cells. Chromosome and isozyme analysis of human chromosomes and gene products in the hybrids localized GLA to Xpter----q22, HEXB to 5q13----qter, in both cases narrowing the regional assignments, and ARSB to 5pter----q13.     

Interleukin-1B (-511) gene polymorphism is associated with acute coronary syndrome in the Turkish population

Objectives: acute coronary syndrome (ACS) is defined as an inflammatory disease associated with development of atherosclerosis and instability. IL-1 is a candidate inflammatory cytokine that is thought to trigger ACS. The purpose of this study was to determine the relationship between IL-1 gene family polymorphisms (IL-1RN, IL-1B in positions -511 and +3953) and ACS in the Turkish population. Methods: a total of 381 people participated in the study, with 117 control subjects and 264 ACS patients. Of the 264 ACS patients, 112 were diagnosed with stable angina pectoris (SAP) and 152 were diagnosed with unstable angina pectoris (USAP). The polymerase chain reaction (PCR) was used to determine the genotype of IL-1RN. The genotypes of IL-1B (-511 and +3953) were determined by PCR, followed by restriction enzyme digestion of the PCR products. Results: there were no significant differences in both IL-1RN, IL-1B (-511 and +3953) genotype distributions and IL-1RN allele frequencies between ACS patients and the control subjects. In addition, no association was observed in the allele frequency of IL-1B (-511 and +3953) between ACS patients and controls (p = 0.113 and p = 0.859, respectively), or between SAP patients and controls (p = 0.575 and p = 0.359, respectively). However, IL-1B allele 1 (C) (-511) polymorphism in USAP patients was found to be significantly different from that of control subjects (p = 0.041, OR: 2.01; 95% CI: 1.985-3.933). A significant difference was also observed between USAP and SAP patients for IL-1B (+3953) allele 1 (C) polymorphism; (p = 0.043, OR: 1.522; 95% CI: 1.012-2.88). Conclusion: these results show that IL-1RN gene polymorphism has no association with ACS. However, the allele 1 (C) of IL-1B (-511) may be a risk factor for susceptibility to USAP in the Turkish population.     

Apolipoprotein B 3'-VNTR polymorphism in the Udmurt population

An analysis of a highly polymorphic region of the apolipoprotein B gene 3'-end DNA (Apo B 3'-VNTR), represented by 10 alleles, was carried out using the polymerase chain reaction. Data inferred from the principal component analysis indicate that the Udmurts occupy an isolated position among the populations constituting the northern branch of Caucasoid peoples.     

Nucleotide polymorphism and phenotypic associations within and around the phytochrome B2 Locus in European aspen (Populus tremula, Salicaceae)

We investigated the utility of association mapping to dissect the genetic basis of naturally occurring variation in bud phenology in European aspen (Populus tremula). With this aim, we surveyed nucleotide polymorphism in 13 fragments spanning an 80-kb region surrounding the phytochrome B2 (phyB2) locus. Although polymorphism varies substantially across the phyB2 region, we detected no signs for deviations from neutral expectations. We also identified a total of 41 single nucleotide polymorphisms (SNPs) that were subsequently scored in a mapping population consisting of 120 trees. We identified two nonsynonymous SNPs in the phytochrome B2 gene that were independently associated with variation in the timing of bud set and that explained between 1.5 and 5% of the observed phenotypic variation in bud set. Earlier studies have shown that the frequencies of both these SNPs vary clinally with latitude. Linkage disequilibrium across the region was low, suggesting that the SNPs we identified are strong candidates for being causally linked to variation in bud set in our mapping populations. One of the SNPs (T608N) is located in the "hinge region," close to the chromophore binding site of the phyB2 protein. The other SNP (L1078P) is located in a region supposed to mediate downstream signaling from the phyB2 locus. The lack of population structure, combined with low levels of linkage disequilibrium, suggests that association mapping is a fruitful method for dissecting naturally occurring variation in Populus tremula.     

Genetic polymorphism in sympatric species of the genus Phlebotomus, with special reference to Phlebotomus perniciosus and Phlebotomus longicuspis (Diptera, Phlebotomidae)

The Random Amplified Polymorphic DNA assay was used to study genetic variation within and between five Phlebotomus species belonging to three subgenera: P. (Larroussius) ariasi, P. (L.) longicuspis, P. (L.) perniciosus, P.(Paraphlebotomus) sergenti and P. (Phlebotomus) papatasi sympatric in southern Spain and proven vector of leishmaniasis. Two cluster analysis were proposed: one according to sandfly species and populations, the second according individual specimens of Phlebotomus perniciosus, Phlebotomus longicuspis s.l. and intermediate morphological specimens between these species. The results obtained are closely correlated with the taxonomy classically accepted for the subgenera and with the automatic classifications made by other authors which use morphological and isoenzymatic data. The validity of the species Phlebotomus longicuspis is also discussed.     

Body weights of ruffed lemurs (Varecia variegata) in European zoos with reference to the problem of obesity

Qualitative observations in several European zoos revealed a high proportion of obese individuals in different species of lemurs. This phenomenon was examined in both subspecies of the ruffed lemur (Varecia variegata variegata and Varecia variegata rubra). Data on body weight were obtained from 43 animals in 13 European zoos and were compared with body weights of wild ruffed lemurs. The captive individuals’ mean weight was significantly higher than either of two different samples of wild V. variegata variegata. Using a weight‐based definition of obesity, 46.5% of the individuals in our sample were obese. Neither significant differences in body weight between the two subspecies nor between sexes could be found. Body weight did not correlate with age. The findings are discussed with reference to the feeding ecology of ruffed lemurs and their nutrition in captivity and to implications for captive breeding programs for this species. Zoo Biol 20:261–269, 2001. © 2001 Wiley‐Liss, Inc.     

Enzyme polymorphism in a population of Calomys musculinus (Rodentia,Cricetidae)

NAD-linked lactate, malate, glycerophosphate, alcohol and nonspecific dehydrogenases, aspartate aminotransferases, and soluble esterases from extracts of tissues of individuals from a wild population of Calomys musculinus (Rodentia, Cricetidae) have been analyzed by means of starch gel electrophoresis and specific staining. Allelic frequencies and heterozygosity have been determined. Mendelian inheritance of some of the variants detected was confirmed by breeding experiments. Ten out of fifteen (66.6%) of the genetic loci investigated presented polymorphism. Mean heterozygosity per locus was very high (H=0.2014, se 0.046).This work has been supported, in part, by grants from the Secretaria de Ciencia y Tecnología de la Nación (National Program for Endemic Diseases) and from the Fundación Emilio Ocampo. C. N. G. is a Fellow and A. B. a Career Investigator of the Consejo Nacional de Investigaciones Científicas y Técnicas of Argentina.