Absence of significant autosomal lesions in Huntington's disease.

abstract：:An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...

journal_title：Annals of human genetics

authors： Whitehouse DB,Hopkinson DA,Hill AV,Bowden DK

更新日期：1985-10-01 00:00:00

abstract：:We estimate the population genetics parameter FST (also referred to as the fixation index) from short tandem repeat (STR) allele frequencies, comparing many worldwide human subpopulations at approximately the national level with continental-scale populations. FST is commonly used to measure population differentiation,...

journal_title：Annals of human genetics

authors： Steele CD,Court DS,Balding DJ

更新日期：2014-11-01 00:00:00

abstract：:Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes us...

journal_title：Annals of human genetics

authors： Sale MM,Freedman BI,Hicks PJ,Williams AH,Langefeld CD,Gallagher CJ,Bowden DW,Rich SS

更新日期：2005-09-01 00:00:00

abstract：:Non-random inheritance of the two parental haplotypes among siblings affected by certain diseases has long been used to provide evidence of the presence of disease susceptibility genes. The distribution of a powerful test, called Q, based on haplotype concordance and discordance, is derived under the null hypothesis o...

journal_title：Annals of human genetics

authors： Shah S,Green JR

更新日期：1994-05-01 00:00:00

abstract：:We have determined the chromosomal location of the human cardiac/slow skeletal muscle troponin C gene (TNNC1) to the short arm of chromosome 3 using somatic cell hybrids. PCR-based analysis of a 'monochromosomal' hybrid panel identified the presence of the TNNC1 gene on human chromosome 3 and subsequent analysis of th...

journal_title：Annals of human genetics

authors： Townsend PJ,Yacoub MH,Barton PJ

更新日期：1997-07-01 00:00:00

abstract：:It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975). ...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-07-01 00:00:00

abstract：:Families segregating for PEPD have been investigated for linkage between PEPD and CYP1. The results provide evidence for close linkage between PEPD and CYP1 in males. ...

journal_title：Annals of human genetics

authors： Davis MB

更新日期：1987-01-01 00:00:00

abstract：:Birth weight, placental weight and gestation time of 26258 single births at Ramathibodi Hospital during 1973-7 were studied in relation to natural selection by fitting quadratic function to natural log of survivors-to-nonsurvivors ratios. The survival criterion was 7 days after delivery. The estimated optimal values o...

journal_title：Annals of human genetics

authors： Promboon S,Mi MP,Chaturachinda K

更新日期：1983-05-01 00:00:00

abstract：:Appetite regulatory neural network and adipocyte homeostasis molecular pathways are critical to long-term weight maintenance. Associations between obesity-related phenotypes and four genes in these pathways - leptin (LEP), leptin receptor (LEPR), neuropeptide Y2 receptor (NPY2R) and peptide YY (PYY) were examined in C...

journal_title：Annals of human genetics

authors： Friedlander Y,Li G,Fornage M,Williams OD,Lewis CE,Schreiner P,Pletcher MJ,Enquobahrie D,Williams M,Siscovick DS

更新日期：2010-09-01 00:00:00

abstract：:Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells. Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3-DPG concentration. Neither was there evidence of variation in Km, heat stabili...

journal_title：Annals of human genetics

authors： Turner VS,Hopkinson DA

更新日期：1981-05-01 00:00:00

abstract：:In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a larg...

journal_title：Annals of human genetics

authors： Guilherme JPLF,Bertuzzi R,Lima-Silva AE,Pereira ADC,Lancha Junior AH

更新日期：2018-09-01 00:00:00

abstract：:The routine performance of high-altitude (HA) natives in the hypoxic environment of HA exemplifies the process of adaptation mainly through natural selection. The recent therapeutic application of nitric oxide (NO) in HA disorders, for the improvement of oxygenation and vasodilation, ushered us to investigate the endo...

journal_title：Annals of human genetics

authors： Ahsan A,Norboo T,Baig MA,Qadar Pasha MA

更新日期：2005-05-01 00:00:00

abstract：:It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and ...

journal_title：Annals of human genetics

authors： Risch N,Baron M

更新日期：1982-05-01 00:00:00

abstract：:The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of t...

journal_title：Annals of human genetics

authors： Van der Ploeg AT,Kroos MA,Swallow DM,Reuser AJ

更新日期：1989-05-01 00:00:00

abstract：:The large literature on family-based tests of association and/or linkage is reviewed, concentrating on the underlying principles and on recent methodological developments. We explain the distinction between testing for association and testing for linkage, and give our views on the circumstances in which each is the ap...

journal_title：Annals of human genetics

authors： Whittaker JC,Morris AP

更新日期：2001-09-01 00:00:00

abstract：:Two popular and robust approaches to analysing affected sib pair (ASP) data for linkage are the traditional excess sharing methods and the transmission/disequilibrium test (TDT). Here we derive an overall test of linkage for multi-allelic ASP marker data which comprises two component tests: one for excess sharing and ...

journal_title：Annals of human genetics

authors： Wicks J,Wilson SR

更新日期：2000-09-01 00:00:00

abstract：:Selection of important genetic and environmental factors is of strong interest in quantitative trait analyses. In this study, we use parallel genetic algorithm (PGA) to identify genetic and environmental factors in genetic association studies of complex human diseases. Our method can take account of both multiple mark...

journal_title：Annals of human genetics

authors： Mukhopadhyay S,George V,Xu H

更新日期：2010-01-01 00:00:00

abstract：:Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on...

journal_title：Annals of human genetics

authors： Gadzicki D,Baumer A,Wey E,Happel CM,Rudolph C,Tönnies H,Neitzel H,Steinemann D,Welte K,Klein C,Schlegelberger B

更新日期：2006-11-01 00:00:00

abstract：:It is show that Wright's F-statistics can be defined as ratios of gene diversities of heterozygosities rather than as the correlations of uniting gametes. This definition is applicable irrespective of the number of alleles involved or whether there is selection or not. The relationship between F-statistics and Nei's g...

journal_title：Annals of human genetics

authors： Nei M

更新日期：1977-10-01 00:00:00

abstract：:Decreased function of the melanocortin-4 receptor (MC4R) was reported to cause late-onset obesity and insulin resistance in rodents. Thus mutations in the MC4R gene drew strong attention as a possible cause of obesity and diabetes. We screened for mutations in the MC4R gene in extremely obese [body mass index (BMI) > ...

journal_title：Annals of human genetics

authors： Ohshiro Y,Sanke T,Ueda K,Shimajiri Y,Nakagawa T,Tsunoda K,Nishi M,Sasaki H,Takasu N,Nanjo K

更新日期：1999-11-01 00:00:00

abstract：:Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies...

journal_title：Annals of human genetics

authors： Shen O,Liu R,Wu W,Yu L,Wang X

更新日期：2012-01-01 00:00:00

abstract：:The available simple mapping functions are surveyed, and a new mapping function that provides for positive interference within chromosome arms and no interference across the centromere is proposed, together with the corresponding formula for centromeric linkage. This new function is derived by assuming that all chromo...

journal_title：Annals of human genetics

authors： Sturt E

更新日期：1976-11-01 00:00:00

abstract：:Peutz-Jeghers' syndrome (PJS) is a disease with autosomal dominant inheritance, which is characterised by gastrointestinal hamartomata and characteristic melanin pigmentation. Three candidate sites for a PJS locus have recently been proposed, chromosomes 1p31-p32, 6q25 and 6p11-cen. At the first of these sites, a mult...

journal_title：Annals of human genetics

authors： Tomlinson IP,Olschwang S,Abelovitch D,Nakamura Y,Bodmer WF,Thomas G,Markie D

更新日期：1996-09-01 00:00:00

abstract：:An isoelectric focusing method for human GDH is described which reveals seven GDH phenotypes. Family studies demonstrate that the variation is genetically determined by three alleles at an autosomal locus with gene frequencies GDH1 = 0.723, GDH2 = 0.194, GDH3 = 0.083. Linkage analysis shows that GDH may be closely lin...

journal_title：Annals of human genetics

authors： King J,Cook PJ

更新日期：1981-05-01 00:00:00

abstract：:Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are ...

journal_title：Annals of human genetics

authors： Rowntree RK,Harris A

更新日期：2003-09-01 00:00:00

abstract：:We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) ...

journal_title：Annals of human genetics

authors： Costa-Urrutia P,Abud C,Franco-Trecu V,Colistro V,Rodríguez-Arellano ME,Vázquez-Pérez J,Granados J,Seelaender M

更新日期：2017-05-01 00:00:00

abstract：:This study traces the evolutionary pathways of the apolipoprotein B gene in the low risk Chinese and high risk Asian Indians in relation to coronary artery disease (CAD). Haplotypes were constructed from six apoB polymorphisms sp24/27, Ag(c/g), Ag(a1/d), XbaI, Ag(h/i) and, Ag(t/z). These were genotyped from 474 Chines...

journal_title：Annals of human genetics

authors： Heng CK,Saha N,Low PS

更新日期：1999-01-01 00:00:00

abstract：:Using in situ hybridization, c-erbA1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46,XX, t(15;17)(q22;q11). Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promy...

journal_title：Annals of human genetics

authors： Sheer D,Sheppard DM,le Beau M,Rowley JD,San Roman C,Solomon E

更新日期：1985-07-01 00:00:00

abstract：:Information on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, ...

journal_title：Annals of human genetics

authors： Claus EB,Risch NJ,Thompson WD

更新日期：1990-05-01 00:00:00

abstract：:Genetic variations in cardiac ion channels have been implicated not only as the causes of inherited arrhythmic syndromes, but also as genetic risk factors for some acquired arrhythmias. To elucidate the potential roles of genetic polymorphisms of the alpha subunit of the voltage-gated sodium channel type V (SCN5A) in ...

journal_title：Annals of human genetics

authors： Maekawa K,Saito Y,Ozawa S,Adachi-Akahane S,Kawamoto M,Komamura K,Shimizu W,Ueno K,Kamakura S,Kamatani N,Kitakaze M,Sawada J

更新日期：2005-07-01 00:00:00