Characterization of the Y-Chromosome Sardinian–Corsican Haplotype

The Y chromosome of 523 Italian male subjects was examined for the 49a,f TaqI haplotype XII and for two microsatellites, YCAIIa and YCAIIb. Results were then compared to other populations living in the western Mediterranean basin whom we had previously studied: 419 French (including 328 Corsicans), 46 Italians from Milan, and 73 Tunisians. Haplotype XII is present in 127 out of the 1061 examined samples (11.9%), and most of the haplotype XII subjects are of the compound haplotype YCAIIa-21 and YCAIIb-11. Two peaks of haplotype XII frequencies occur in the north of Sardinia (35%) and in the central area of Corsica (17.4%).     

A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer

We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The study population was subdivided into a set of training subjects to explore genetic variation of the locus potentially impacting risk of prostate cancer, and an independent set of test subjects to confirm the association and to assign significance, addressing multiple comparisons. We identified a 22.9 kb haplotype nominally associated with prostate cancer among training subjects (292 cases, 292 controls; χ² = 5.08, P = 0.020), that was confirmed among test subjects (215 cases, 215 controls; χ² = 3.73, P = 0.040). The haplotype predisposed to prostate cancer with an odds ratio of 3.41 (95% CI 1.04–11.17, P = 0.034) among test subjects. The haplotype extending from rs5907859 to rs1493189 is concordant with a prior study of the region within the Finnish founder population, and warrants further independent investigation. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Y-Chromosome Haplotypes in the Greek–Turkish Area

Various populations have contributed to the present-day gene pool in oriental Mediterranean (Aegean Sea) and are well documented for ancient history. The primary objective of the study is to report on the analysis of the paternal component of the variation (Y chromosome haplotypes) in contemporary populations in Greece, Crete, Turkey and Cyprus. A total of 245 males who hailed from five different locations in Turkey, Greece, and the islands of Crete and Cyprus were analyzed for Y-chromosome-specific haplotypes based on p49a,f TaqI polymorphism. The main haplotype observed (21.2%) in the Greek–Turkish area is haplotype VII. The second haplotype in terms of frequency (13.5%) is haplotype VIII, which is characteristic of Semitic populations. The third (11.4%), fourth (6.9%) and fifth (5.7%) haplotypes in frequency are haplotype XI (a typical eastern European haplotype), haplotype V (the North African haplotype) and haplotype XV (the Western European haplotype), respectively. The distribution of haplotype VII is significantly heterogeneous genetically among the five localities studied, with a peak of frequency (43.8%) in Crete. It is proposed that haplotype VII reflects the ancient Minoan civilization. Haplotype VII frequencies actually known are mapped in countries surrounding the Mediterranean Sea.     

Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping study in Spanish subjects involving 175 candidate cancer genes using an indirect gene-based approach and compared results with those for HapMap CEU subjects. Allele frequencies were very consistent between the two samples, with a high positive correlation (R) of 0.91 (P<<1×10⁻⁶). Linkage disequilibrium patterns and block structures across each gene were also very similar, with disequilibrium coefficient (r ²) highly correlated (R=0.95, P<<1×10⁻⁶). We found that of the 21 genes that contained at least one block larger than 60 kb, nine (ATM, ATR, BRCA1, ERCC6, FANCC, RAD17, RAD50, RAD54B and XRCC4) belonged to the GO category “DNA repair”. Haplotype frequencies per gene were also highly correlated (mean R=0.93), as was haplotype diversity (R=0.91, P<<1×10⁻⁶). “Yin yang” haplotypes were observed for 43% of the genes analysed and 18% of those were identical to the ancestral haplotype (identified in Chimpazee). Finally, the portability of tagSNPs identified in the HapMap CEU data using pairwise r ² thresholds of 0.8 and 0.5 was assessed by applying these to the Spanish and current HapMap data for 66 genes. In general, the HapMap tagSNPs performed very well. Our results show generally high concordance with HapMap data in allele frequencies and haplotype distributions and confirm the applicability of HapMap SNP data to the study of complex diseases among the Spanish population. Electronic Supplementary Material Supplementary material is available for this article at and is accessible for authorized users.     

Restriction site polymorphisms at the human HepG2 glucose transporter gene locus in Caucasian and west Indian subjects with non-insulin-dependent diabetes mellitus

Digestion of human genomic DNA with the restriction enzyme StuI revealed a 2-allele polymorphism with a human HepG2 glucose transporter probe. Bands of 3.2 kilobases (kb; S1 allele) and 2.6 kb (S2 allele) were observed. The genotype frequencies were investigated in 2 non-insulin-dependent diabetic populations. The genotype frequencies of S1S1, S1S2 and S2S2 were 6, 42 and 52% among Caucasian diabetic subjects (n = 48), and 11, 38 and 51% in 47 controls, respectively. In West Indian diabetic patients (n = 48), the genotype frequencies were 17, 54 and 29%, and for 36 controls they were 25, 33 and 42%, respectively. The polymorphism information content of this restriction fragment length polymorphism (RFLP) is 0.32 in Caucasians and 0.37 in West Indians, respectively. There was no significant difference of allele or genotype frequencies between the diabetic patients and non-diabetic controls in either group. Haplotype analysis of the StuI and XbaI RFLPs showed that there was also no significant difference in the frequencies of the four different haplotypes S1X1, S1X2, S2X1 and S2X2 between the patients and controls. However, there was a difference for the frequency of the S1 allele between Caucasians (controls 30%, patients 27%) and West Indians (controls 42%, patients 44%). There was also a significant difference in the frequency of haplotype S2X2 between these two racial groups (controls 48%, cases 51% for Caucasians, and controls 33%, cases 22% for West Indians).     

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France

In order to contribute to a better understanding of the dispersion of cystic fibrosis (CF) mutations in the South of France, seven diallelic and three multiallelic markers [three upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (XV-2c, KM.19 and J44) and seven intragenic polymorphisms (IVS6A, IVS8CA, M470V, T854T, IVS17BTA, IVS17BCA and TUB18)] were analyzed for 143 ΔF508 chromosomes, 100 CF chromosomes carrying 85 non-ΔF508 and 15 unknown mutations, and 198 normal CFTR alleles. The study provides haplotypic data for 39 different CF mutations, which should be useful in diagnosis by haplotypic analysis and detection of the associated mutations. A major haplotype [2-1-2-7-16-2-1-(30/31)-13-1] was found in normal chromosomes, which should be the most ancient in the Caucasoid population. The most frequent haplotypes in normal chromosomes were associated with 16 different non-ΔF508 mutations, suggesting that there was no preferential haplotype on which these mutations arose. Several mutations were each associated with more than one haplotype, as the result of slippage at one or two of the three microsatellites (ΔF508, G542X, N1303K, G85E, E585X, K710X and 2184delA) or recombination (1717-1G→A, R334W, L206W, R1162X and Y122X). Haplotypes for the most common CFTR mutations (ΔF508, G542X, N1303K) revealed that a large number of alleles were generated by slippage at the microsatellite loci, suggesting that they are the most ancient CF mutations. Other mutations were associated with haplotypes that were different either at several diallelic sites (R334W) or at both diallelic and microsatellite markers (R1162X and R1158X), which is more suggestive of recurrence. Twenty recombinations were detected among the CF mutant alleles analyzed, 75% of them occurring in the second half of the CFTR gene. The higher mutational heterogeneity and the haplotypic variability reported in this small population from the Mediterranean area are consistent with an earlier appearance of CFTR mutations in southern Europe than in central and northern Europe, and an earlier origin and expansion of this population. Received: 19 February 1996 / Revised: 10 April 1996     

A folate receptor alpha double-mutated haplotype 1816delC–1841A is distributed throughout Eurasia and associated with lower erythrocyte folate levels

Folate is crucial for various cellular functions. Several transport mechanisms allow folate to enter the intracellular compartment with folate receptor-α being the major high-affinity receptor. Rare genetic variations in exons of the FR-α gene, FOLR1, were recently shown to cause severe folate deficiency accompanied by neurological and other disturbances. So far, similar effects by genetic variation in noncoding parts of the FOLR1 gene have not been identified. The aim of our study was to determine biochemically the haplotype structure of two linked polymorphisms in the FOLR1 gene, 1816delC and 1841G>A, the prevalences of the mutated alleles across Eurasia, and their possible effects on physiological folate levels in vivo. For this purpose we employed allele-specific PCR and Pyrosequencing technology and performed genotyping in 738 subjects from Spain, 387 from Sweden, 952 from Estonia, and 47 from Korea. We demonstrate the presence of an ancient double-mutated haplotype 1816delC–1841A in the FOLR1 gene, with the prevalence of the mutated allele being highest among Koreans (q = 0.074), lower in Estonians (q = 0.017), Spaniards (q = 0.0061), and the lowest among Swedes (q = 0.0026). Erythrocyte folate levels were studied in the Spanish population sample, where subjects carrying the double-mutated FOLR1 haplotype had significantly reduced levels by 27% (P = 0.039), adjusted for serum vitamin B₁₂ levels and MTHFR 677C>T genotype, while the mean serum folate levels were only 20% lower among the carriers (P = 0.11). Plasma homocysteine and cobalamin levels did not differ. Thus, we have demonstrated by molecular haplotyping an ancient double-mutated haplotype 1816delC–1841A in the FOLR1 gene, spread over the whole Eurasian continent, which may be of functional importance for uptake of folate in red blood cells.     

Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM)

Summary In order to determine the possible contribution of the GLUT1 (HepG2) glucose transporter gene to the inheritance of non-insulin-dependent diabetes mellitus (NIDDM), two restriction fragment length polymorphisms (RFLPs) and the related haplotypes at this locus were studied in 48 Italian diabetic patients and 58 normal subjects. Genotype frequencies for the XbaI polymorphism were significantly different between patients and controls (XbaI: ² = 9.80, df= 2, P < 0.0079). A significant difference was also found in the allele frequencies between NIDDM patients and controls (² =9.39, df = 1, P < 0.0022), whereas no differences were found for the StuI RFLP. No linkage disequilibrium was detected between the XbaI and StuI RFLPs in this sample. The analysis of the four haplotype frequencies (X1S1, X1S2, X2S1, X2S2) revealed a significant difference between diabetic patients and controls (² = 14.26, df =3, P < 0.002). By comparing single haplotype frequencies, a significant difference between the two groups was found for the X1S1 and X2S2 haplotypes. A two-allele RFLP at the GLUT4 (muscle/adipocyte) glucose transporter gene, detected with the restriction enzyme KpnI, was also examined; no differences were found between patients and controls for this RFLP. The finding of an association between polymorphic markers at the GLUT1 transporter and NIDDM suggests that this locus may contribute to the inherited susceptibility to the disease in this Italian population.     

mtDNA Diversity and genetic lineages of eighteen cattle breeds from <Emphasis Type="Italic">Bos taurus </Emphasis>and<Emphasis Type="Italic"> Bos indicus</Emphasis> in China

In order to clarify the origin and genetic diversity of indigenous cattle breeds in China, we carried out phylogenetic analysis of representatives of those breeds by employing mitochondrial gene polymorphism. Complete cyt b gene sequences, 1140 bp in length, were determined for a total of 136 individuals from 18 different breeds and these sequences were clustered into two distinct genetic lineages: taurine (Bos taurus) and zebu (Bos indicus). In analysis of the cyt b gene diversity, Chinese cattle showed higher nucleotide (0.00923) and haplotype diversity (0.848) than the reports from other studies, and the animals from the taurine lineage indicated higher nucleotide diversity (0.00330) and haplotype diversity (0.746) than the ones from the zebu lineage (0.00136; 0.661). The zebu mtDNA dominated in the southern breeds (63.3–100%), while the taurine dominated in the northern breeds (81.8–100%). Six cattle breeds from the central area of China exhibited intermediate frequencies of zebu mtDNA (25–71.4%). This polymorphism revealed a declining south-to-north gradient of female zebu introgression and a geographical hybrid zone of Bos taurus and Bos indicus in China.     

Association of adiponectin gene polymorphisms with the risk of ischemic stroke in a Chinese Han population

Adiponectin is inversely associated with the risk of ischemic stroke through its anti-inflammatory and anti-atherogenic effects. Genetic variations in the adiponectin gene (ADIPOQ) have been shown to be associated with the risk of ischemic stroke in Caucasians and Japanese populations. However, it was unknown whether variations in the ADIPOQ gene were associated with the risk of ischemic stroke in Chinese population. A case-control study was performed among 302 patients with ischemic stroke and 338 unrelated controls in a Chinese Han population. The single-nucleotide polymorphisms (SNPs) rs266729 (−11377C/G), rs2241766 (+45T/G), rs1501299 (+276G/T) in the ADIPOQ gene were genotyped by the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method. The frequencies of GG genotype and G allele of rs266729 in the patients with ischemic stroke were significantly higher than those in the controls (P = 0.034, P = 0.010, respectively). In univariate logistic analysis, compared with CC genotype, GG genotype of rs266729 increased the risk of ischemic stroke (odds ratio (OR) = 2.062, 95% confidence interval (CI) = 1.145–3.715, P = 0.016). After adjustment for potential risk factors by the multivariate logistic analysis, rs266729 remained positive correlation with ischemic stroke (OR = 2.165; 95% CI = 1.116–4.197, P = 0.022). However, no significant association was observed among rs2241766, rs1501299 and ischemic stroke. In addition, no significant difference was found in haplotype frequencies between the patients with ischemic stroke and control subjects. The present study demonstrated that the promoter polymorphism rs266729 of the ADIPOQ gene was associated with an increased risk of ischemic stroke in the Chinese Han population.     

Gm and Inv [Km] allotypes among Libyan and Ashkenazi Jews,and Armenians living in Israel

Summary Serum samples from Armenians, and from Libyan and Ashkenazi Jews living in Israel were tested for Gm (1, 2, 3, 5, 6, 10, 11, 13, 14, 17, 21, 24, 26) and for Inv(1) [Km(1)].The Gm data indicate that all three populations have Negroid and Mongoloid admixture. The minimum amount of admixture varies from 3.1% (Armenians) to 5.5% (Libyan Jews). This admixture had not been detected by the study of other polymorphisms, thus once again underlining the sensitivity of the Gm system. The haplotype frequencies among the Libyan Jews are markedly different from those among the Ashkenazi Jews. Surprisingly (coincidentally?) the haplotype frequencies among the Ashkenazi Jews and the Armenians are similar.The Libyan Jews have a significantly higher frequency of Inv ¹ than do the Ashkenazi Jews and among the latter, Inv ¹ is at least twice as frequent among Polish Jews as it is among Russian Jews.     

Frequent occurrence of CYP2D6*10 duplication allele in a Japanese population

Allele-specific long-polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (RFLP) and haplotype analysis using XbaI and EcoRI were used to determine whether gene duplication of CYP2D6*10 exists in a Japanese population of 162 healthy subjects. Based on the results of PCR and haplotype analysis, the frequencies of CYP2D6*1X2, CYP2D6*2X2 and CYP2D6*10X2 in the Japanese population were estimated to be 0.3, 0.3 and 0.6%, respectively. The results suggest that duplicated alleles of CYP2D6*10 exist in the Japanese population and that it may be one of the factors affecting the capacity of Japanese to metabolize various CYP2D6 substrate drugs.     

Abnormal hemoglobins among Kurdish population of Western Iran: hematological and molecular features

The type and frequency of structural hemoglobin variants and their hematological and molecular characteristics were identified using PCR-RFLP and sequencing techniques in 66 individuals from 33 unrelated families who referred to the two clinics of Kermanshah University of Medical Sciences from 2005 to 2006. We detected 28 subjects carrier for Hb D-Punjab (42.4%), 21 individuals carrier of Hb Q-Iran (31.8%), 12 subjects heterozygous for Hb Setif (18.2%), four cases with sickle cell disease (6.1%), and one case with Hb C (1.5%). All β^S genes (4 genes) were linked to the Benin haplotype with negative Taq I site 5′ to γ^A gene. All β^D-Punjab genes (29 genes) were in linkage disequilibrium with haplotype I. The only β^C chromosome was linked to haplotype II. Both β⁰-thalassemia chromosomes with CD15 (G → A) mutation had haplotype background I. Three β⁺-thalassemia chromosomes with IVSI.110 (G → A) mutation were associated with haplotype I [+ − − − − + +]. In turn, the three β-thalassemia chromosomes with IVS II.1 G → A mutation were associated with atypical haplotype [− + + + + + −]. Hematological indices of carriers of Hb D-Punjab, Hb Q-Iran and Hb Setif were lower than those reported for normal individuals. For the first time, we have reported the haplotype background of β^S gene among Kurdish population of Iran. Our results revealed that Hb D-Punjab is the most prevalent β-globin chain structural variant in this area and that is followed in frequency by an α-chain variant, Hb Q-Iran. The result of present study is useful for clinical management and the establishment of screening programmes in Western Iran.     

Association of neuregulin 1 with schizophrenia confirmed in a Scottish population

Recently, we identified neuregulin 1 (NRG1) as a susceptibility gene for schizophrenia in the Icelandic population, by a combined linkage and association approach. Here, we report the first study evaluating the relevance of NRG1 to schizophrenia in a population outside Iceland. Markers representing a core at-risk haplotype found in Icelanders at the 5' end of the NRG1 gene were genotyped in 609 unrelated Scottish patients and 618 unrelated Scottish control individuals. This haplotype consisted of five SNP markers and two microsatellites, which all appear to be in strong linkage disequilibrium. For the Scottish patients and control subjects, haplotype frequencies were estimated by maximum likelihood, using the expectation-maximization algorithm. The frequency of the seven-marker haplotype among the Scottish patients was significantly greater than that among the control subjects (10.2% vs. 5.9%, P=.00031). The estimated risk ratio was 1.8, which is in keeping with our report of unrelated Icelandic patients (2.1). Three of the seven markers in the haplotype gave single-point P values ranging from .000064 to .0021 for the allele contributing to the at-risk haplotype. This direct replication of haplotype association in a second population further implicates NRG1 as a factor that contributes to the etiology of schizophrenia.     

Genetic variation in heat shock protein 60 gene and coronary heart disease in China: tagging-SNP haplotype analysis in a case-control study

Background High levels of circulating heat shock protein 60 (Hsp60) and antibody to human Hsp60 have been associated with greater risk of coronary heart disease (CHD) in several studies, but associations between polymorphisms of the hsp60 gene and CHD risk have not been investigated. Methods By resequencing DNA from 30 unrelated Han Chinese and using HapMap Phase I Chinese data of hsp60 gene, we selected four tagging single nucleotide polymorphisms (tagSNPs) named rs2340690, rs788016, rs2305560, and rs2565163, and determined their frequencies in 1,003 Chinese CHD patients and 1,003 age- and sex-frequency-matched controls. Furthermore, we used PHASE 2.0 software to reconstruct haplotypes and logistic regression to control for potential confounders in multivariate analyses. Results We found 13 SNPs in hsp60 gene (including four novel SNPs) in Han Chinese subjects. Our results showed no significant differences in four selected SNPs in patients with CHD and controls after adjusting for other conventional risk factors and stratifying by age, sex, smoking status, past history of hypertension and DM; however, our results showed that subjects with the GCTC haplotype had about twofold higher risk of CHD than those with the GTTC haplotype (OR = 1.91, 95%CI: 1.26–2.89, P = 0.002). Conclusions Our results suggest that the GCTC haplotype in the hsp60 gene is significantly associated with higher CHD risk in a Chinese population. The first two authors contributed equally to this paper.     

Comparative GC–FID and GC–MS analysis of the mono and sesquiterpene secondary metabolites produced by the field grown and micropropagated plants of <Emphasis Type="Italic">Artemisia amygdalina</Emphasis> Decne

The essential oil obtained by hydrodistillation from the leaves of micropropagated plants of Artemisia amygdalina was analyzed by capillary GC–FID and GC–MS and compared with that obtained from the leaves of field growing parent plants. The oil yield from the micropropagated plants was lower (0.05% v/w) than the oil yield obtained from field-grown plants (0.2% v/w). The major constituents of the field-grown plants were p-cymene (21.0%), 1,8-cineole (24.9%), α-terpineol (5.9%), β-caryophyllene (4.7%), germacrene D (4.0%), while as the major constituents from the micropropagated plants were p-cymene (11.3%),1,8-cineole (10.2%), borneol (7.9%), α-longipinene (5.5%), α-copaene (5.5%) and β-caryophyllene (17%). The essential oil from field-grown plant was dominated by the presence of oxygenated monoterpenes (41.5%), monoterpene hydrocarbons (35.9%) and sesquiterpene hydrocarbons (16.3%) while as the essential oil of micropropagated plants was characterized by sesquiterpene hydrocarbons (40.0%), oxygenated monoterpenes (25.2%) and monoterpene hydrocarbons (21.6%).     

Characterization of pharmacogenetically relevant CYP2D6 and ABCB1 gene polymorphisms in a Portuguese population sample

Differences in metabolism of drugs can lead to severe toxicity or therapeutic failure. In addition to cytochrome P450 2D6, which plays a critical role in drug metabolism, ABCB1 encoded P‐glycoprotein (PGP) is also an important determinant in drug bioavailability. The genes encoding these molecules are highly variable among populations and, given their clinical importance in drug therapy, determining CYP2D6 and ABCB1 allele frequencies in specific populations is very important for useful application in clinical settings. In this study the frequency of the pharmacologically relevant CYP2D6*3, *4, *5, *6 allelic variants and gene duplication, and ABCB1 C1236T and C3435T gene polymorphisms and their haplotypes was determined in a population sample of 100 Portuguese healthy subjects. CYP2D6 allele frequencies were 1.4% (*3), 13.3% (*4), 2.8% (*5), 1.8% (*6) and 6.1% (gene duplication), with 5% of the individuals classified as PM and 8.4% as UM. The frequencies obtained for the non‐functional alleles and for the CYP2D6 gene duplication are in agreement with other South European populations, and reinforce the previously suggested south/north gradient of CYP2D6 duplications. Allelic frequencies for the ABCB1 polymorphisms were 52% (3435C) and 54% (1236C) and the most common haplotype (1236C‐3435C) occurred with a frequency of 45.5%. Although allele and haplotype frequency data for ABCB1 in Southern Europe is limited, some discrepancies were found with other European populations, with possible therapeutic implications for PGP substrate drugs. Copyright © 2009 John Wiley & Sons, Ltd.     

The EPAS1 gene influences the aerobic–anaerobic contribution in elite endurance athletes

Absract EPAS1 is a gene involved in complex oxygen sensing. It is expressed in microvascular endothelial cells, lung epithelial cells, cardiac myocytes and the brain. An association study was undertaken comparing elite endurance athletes classified into two groups according to a power–time model of performance intensity: power–time-maximum (PT-MAX; N=242, event duration 50 s to 10 min) and power–time–steady state (PT-SS; N=151, event duration ~2–10 h), with normal controls (N=444) using 12 SNPs across EPAS1. Ordinal regression analysis of allele frequencies revealed significant differences at SNPs 2 and 3 (P=0.01). Haplotype analysis revealed the presence of haplotypes involving SNPs 2–5 that significantly differentiated (P<0.05) the groups based on an ordinal ranking using the power–time classification. These same haplotypes differentiated the PT-MAX group in which a significant decrease in a haplotype (F: G-C-C-G; OR=0.57, P=0.02, 95% CI 0.36–0.92) and increase in a second haplotype (G: A-T-G-G; OR=1.75, P=0.03, 95% CI 1.05–2.91) was observed compared to controls. The PT-SS group was differentiated from the PT-MAX group by a third haplotype (H: A-T-G-A; OR=0.46, P=0.04, 95% CI 0.22–0.96). Since EPAS1 has a role as a sensor capable of integrating cardiovascular function, energetic demand, muscle activity and oxygen availability into physiological adaptation, we propose that DNA variants in EPAS1 influence the relative contribution of aerobic and anaerobic metabolism and hence the maximum sustainable metabolic power for a given event duration.     

Haplotypes of the Y chromosome in some populations of west Africa

One Y-specific DNA polymorphism (p49/Taql) was studied in a sample of 469 African males coming from twelve populations of sub-Saharan Africa. An high frequency (62.5%) of the Y-haplotype IV was observed in these populations, the most elevated percentage of this haplotype being observed in Mossis (from Burkina-Fasso). The “Arabic” haplotype V is present in these populations at a mean frequency of 8.7%. The “oriental” haplotype XI is present at a mean frequency of 11.3%, the most elevated percentage of this haplotype being observed in Songhaiis (from Niger). Laboratory of Pharmacogenetics