Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

abstract：:Hybrid clones (MOGs) were made between the mouse line RAG and a primary fibroblast line from an individual of the rare alphaGLU 2 phenotype. Fifteen independent primary clones and 32 subclones were tested for the presence of human alphaGLU after separation of the human and rodent enzymes by starch gel electrophoresis....

journal_title：Annals of human genetics

authors： Solomon E,Swallow D,Burgess S,Evans L

更新日期：1979-01-01 00:00:00

abstract：:Sibship methods have been shown to be more powerful than traditional sib-pair methods in mapping quantative trait loci. We propose a statistical procedure which integrates data on sibships into a so-called 'contrast function', a natural extension of the classical squared sib-pair trait difference proposed by Haseman &...

journal_title：Annals of human genetics

authors： Ghosh S,Reich T

更新日期：2002-03-01 00:00:00

abstract：:In case-control studies of complex disease genes, allele frequencies or allele positivities at candidate loci or markers are compared between cases and controls. Although 2 x 2 contingency tables based on allele frequency and allele positivity are generally used to perform simple statistical tests (e.g. a comparison o...

journal_title：Annals of human genetics

authors： Ohashi J,Yamamoto S,Tsuchiya N,Hatta Y,Komata T,Matsushita M,Tokunaga K

更新日期：2001-03-01 00:00:00

abstract：:The Regression of Offspring on Mid-Parent (ROMP) method is a test of association between a quantitative trait and a candidate locus. ROMP estimates the trait heritability and the heritability attributable to a locus and requires genotyping the offspring only. In this study, the theory underlying ROMP was revised (ROMP...

journal_title：Annals of human genetics

authors： Roy-Gagnon MH,Mathias RA,Fallin MD,Jee SH,Broman KW,Wilson AF

更新日期：2008-01-01 00:00:00

abstract：:Ancient diversity in Sub-Saharan Africa is known to have been re-modulated to a large extent by Bantu migrations in the sub-Sahel region, in two southwards waves of advance through both the west and east coasts. Haplotype matching performed for Y-STR haplotypes in several sub-Saharan populations, both inside and outsi...

journal_title：Annals of human genetics

authors： Pereira L,Gusmão L,Alves C,Amorim A,Prata MJ

更新日期：2002-11-01 00:00:00

abstract：:In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...

journal_title：Annals of human genetics

authors： Brehm A,Pereira L,Bandelt HJ,Prata MJ,Amorim A

更新日期：2002-01-01 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：:Primary ciliary dyskinesia (PCD) is a genetic disorder, usually autosomal recessive, causing early respiratory disease and later subfertility. Whole exome sequencing may enable efficient analysis for locus heterogeneous disorders such as PCD. We whole-exome-sequenced one consanguineous Saudi Arabian with clinically di...

journal_title：Annals of human genetics

authors： Alsaadi MM,Gaunt TR,Boustred CR,Guthrie PA,Liu X,Lenzi L,Rainbow L,Hall N,Alharbi KK,Day IN

更新日期：2012-05-01 00:00:00

abstract：:Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to stud...

journal_title：Annals of human genetics

authors： Sha Y,Sha Y,Ji Z,Ding L,Zhang Q,Ouyang H,Lin S,Wang X,Shao L,Shi C,Li P,Song Y

更新日期：2017-03-01 00:00:00

abstract：:Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondria...

journal_title：Annals of human genetics

authors： Malyarchuk BA,Grzybowski T,Derenko MV,Czarny J,Miścicka-Sliwka D

更新日期：2006-03-01 00:00:00

abstract：:In case-control association studies unobserved population stratification may act as a confounder, leading to an increased number of false positive results. Methods accounting for population structure by using additional genetic markers broadly follow one of two concepts: Genomic Control (GC) and Structured Association...

journal_title：Annals of human genetics

authors： Köhler K,Bickeböller H

更新日期：2006-01-01 00:00:00

abstract：:Typically genetic studies of continuous traits such as cholesterol levels or blood pressure assume that interindividual variability follows a normal distribution. Here we develop methods to analyze positively skewed data by assuming a lognormal distribution. We develop a variance components approach for identifying su...

journal_title：Annals of human genetics

authors： Wan Y,De Andrade M,Yu L,Cohen J,Amos CI

更新日期：1998-11-01 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：:Numerous functional studies have implicated PARL in relation to type 2 diabetes (T2D). We hypothesised that conflicting human association studies may be due to neighbouring causal variants being in linkage disequilibrium (LD) with PARL. We conducted a comprehensive candidate gene study of the extended LD genomic regio...

journal_title：Annals of human genetics

authors： Direk K,Lau W,Small KS,Maniatis N,Andrew T

更新日期：2014-09-01 00:00:00

abstract：:Case-parent triad data are considered a robust basis for studying association between variants of a gene and a disease. Methods evaluating statistical significance of association, like the TDT-test and its extensions, are frequently used. When there are prior hypotheses of a causal effect of the gene under study, howe...

journal_title：Annals of human genetics

authors： Gjessing HK,Lie RT

更新日期：2006-05-01 00:00:00

abstract：:Recursively computed descent probabilities provide an effective way to evaluate possible ancestries of rare alleles segregating in large and complex genealogies, but they ignore information other than the descent to a small set of current gene copies. We show how descent probability computations can be modified to inc...

journal_title：Annals of human genetics

authors： Thompson EA,Morgan K

更新日期：1989-10-01 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：:To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. If z(theta 1) reaches +3 then linkage is concluded. However, in practice, lod scores are calculated for different values of the recombination fraction bet...

journal_title：Annals of human genetics

authors： Génin E,Martinez M,Clerget-Darpoux F

更新日期：1995-01-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Individuals with slow N-acetylation phenotype often experience toxicity from drugs such as isoniazid, sulfonamides, procainamide, and hydralazine, whereas rapid acetylators may not respond to these medications. The highly polymorphic N-acetyltransferase 2 enzyme encoded by the NAT2 gene is one of...

journal_title：Annals of human genetics

authors： Al-Ahmad MM,Amir N,Dhanasekaran S,John A,Abdulrazzaq YM,Ali BR,Bastaki S

更新日期：2017-09-01 00:00:00

abstract：:Apparently identical twin boys are both XX/XY and have two populations, A1 and B, of cells in their peripheral blood. Chimerism in somatic tissue outside the blood cells can be demonstrated in only one of the twins. From analysis of chromosomes and many gene markers the mechanism of origin of the unusual twins remains...

journal_title：Annals of human genetics

authors： Iselius L,Lambert B,Lindsten J,Tippett P,Gavin J,Daniels G,Yates A,Ritzén M,Sandstedt B

更新日期：1979-10-01 00:00:00

abstract：OBJECTIVE:Preeclampsia (PE) is a life-threatening complication of pregnancy that accounts for 12% of all maternal deaths worldwide. The aim of this study is to investigate the relationships between the polymorphisms of angiotensinogen (AGT) gene and preeclampsia. MATERIAL AND METHODS:In this study, 240 unrelated preec...

journal_title：Annals of human genetics

authors： Alaee E,Mirahmadi M,Ghasemi M,Kashani E,Attar M,Shahbazi M

更新日期：2019-11-01 00:00:00

abstract：:Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. Genetic variation in the PPARD gene might affect physical endurance and has been associated with obesity. We investigated the independent and modifying effect of variants...

journal_title：Annals of human genetics

authors： Villegas R,Williams S,Gao Y,Cai Q,Li H,Elasy T,Cai H,Edwards T,Xiang YB,Zheng W,Long J,Ou Shu X

更新日期：2011-09-01 00:00:00

abstract：:The polygenic threshold model assumes that the distribution of the underlying liability is approximately normal. This paper examines the impact of deviations from normality in the underlying liability distribution when the number of loci affecting liability is finite, but large (e.g. 5-10). Skewness and kurtosis of th...

journal_title：Annals of human genetics

authors： Kendler KS,Kidd KK

更新日期：1986-01-01 00:00:00

abstract：:It is often assumed that Afrikaners stem from a small number of Dutch immigrants. As a result they should be genetically homogeneous, show founder effects and be rather inbred. By disentangling my own South African pedigree, that is on average 12 generations deep, I try to quantify the genetic heritage of an Afrikaner...

journal_title：Annals of human genetics

authors： Greeff JM

更新日期：2007-09-01 00:00:00

abstract：:Two closely linked structural loci, D and 'CcEe', are proposed as the basis of the Rh blood groups. Mutation and unequal crossing-over between the two loci at meiosis are considered as possible explanations for some rare Rh complexes. The theory predicts that complexes arising from unequal crossing-over would be expec...

journal_title：Annals of human genetics

authors： Tippett P

更新日期：1986-07-01 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：:We evaluated denaturing high pressure liquid chromatography (DHPLC) as a scanning method for mutation detection in TSC2, and compared it to conformation-sensitive gel electrophoresis (CSGE) and single-stranded conformation polymorphism analysis (SSCP). The first 20 exons of TSC2 were amplified from 84 TSC patients and...

journal_title：Annals of human genetics

authors： Choy YS,Dabora SL,Hall F,Ramesh V,Niida Y,Franz D,Kasprzyk-Obara J,Reeve MP,Kwiatkowski DJ

更新日期：1999-09-01 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：:Using the Succession Rule of Laplace (1795) and related reasoning, this paper shows how to give unbiased counselling to patients when predictions are to be based on small samples. The recombination fraction can be regarded as a probability parameter, theta, which itself has a probability distribution between the limit...

journal_title：Annals of human genetics

authors： Renwick JH

更新日期：1990-10-01 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