New variants of Ps salivary polymorphic proteins.

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：:In a study based on 173 individuals drawn from three endogamous, co-resident communities in the province of Punjab, the Awan, Khattar and Rajpoot, an analysis of 10 autosomal single tandem repeats on chromosomes 13 and 15 revealed distinctive genetic profiles in each community. A total of 99 different alleles were det...

journal_title：Annals of human genetics

authors： Wang W,Sullivan SG,Ahmed S,Chandler D,Zhivotovsky LA,Bittles AH

更新日期：2000-01-01 00:00:00

abstract：:Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the exp...

journal_title：Annals of human genetics

authors： Sepúlveda N,Manjurano A,Drakeley C,Clark TG

更新日期：2014-07-01 00:00:00

abstract：:The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (SNPs) were examined (rs10934490, rs16834817, rs6810298, rs928923...

journal_title：Annals of human genetics

authors： Horne BD,Hauser ER,Wang L,Muhlestein JB,Anderson JL,Carlquist JF,Shah SH,Kraus WE

更新日期：2009-11-01 00:00:00

abstract：INTRODUCTION:Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is importa...

journal_title：Annals of human genetics

authors： Özyilmaz B,Kirbiyik Ö,Özdemir TR,Kaya Özer Ö,Kutbay YB,Erdogan KM,Güvenç MS,Kale MY,Gazeteci H,Kiliç B,Sertpoyraz F,Diniz G,Baydan F,Gençpinar P,Dündar NO,Yiş U

更新日期：2019-09-01 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：: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：: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：:Research suggests pulse pressure (PP) is a predictor of cardiovascular disease, and genes likely influence PP levels. Additionally, gender may be an effect modifier between PP and cardiovascular disease. This study addresses whether two renin-angiotensin-aldosterone system (RAAS) variants are associated with PP in a s...

journal_title：Annals of human genetics

authors： Lynch AI,Arnett DK,Davis BR,Boerwinkle E,Ford CE,Eckfeldt JH,Leiendecker-Foster C

更新日期：2007-11-01 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：:This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objec...

journal_title：Annals of human genetics

authors： Weiss KM,Lambert BW

更新日期：2011-05-01 00:00:00

abstract：:A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls f...

journal_title：Annals of human genetics

authors： Klein C,Vieregge P,Hagenah J,Sieberer M,Doyle E,Jacobs H,Gasser T,Breakefield XO,Risch NJ,Ozelius LJ

更新日期：1999-07-01 00:00:00

abstract：:The segregation of human cytosolic alanine aminotransferase (AAT1) and the individual human chromosomes has been studied in 27 secondary and tertiary rat hepatoma-human (liver) fibroblast hybrids. The staining solution used to visualize AAT activity on starch gels was specific for AAT since it was visualized only when...

journal_title：Annals of human genetics

authors： Astrin KH,Arredondo-Vega FX,Desnick RJ,Smith M

更新日期：1982-05-01 00:00:00

abstract：:Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autis...

journal_title：Annals of human genetics

authors： Ma D,Salyakina D,Jaworski JM,Konidari I,Whitehead PL,Andersen AN,Hoffman JD,Slifer SH,Hedges DJ,Cukier HN,Griswold AJ,McCauley JL,Beecham GW,Wright HH,Abramson RK,Martin ER,Hussman JP,Gilbert JR,Cuccaro ML,Haines JL

更新日期：2009-05-01 00:00:00

abstract：:A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

journal_title：Annals of human genetics

authors： Nikolova M

更新日期：1996-11-01 00:00:00

abstract：:Co-segregation studies based on a selection of intragenic restriction fragment length polymorphisms of the low density lipoprotein receptor (LDLR) gene have been used extensively both for research and diagnostic studies of familial hypercholesterolaemia (FH) families, because direct mutation screening remains complex....

journal_title：Annals of human genetics

authors： Haddad L,Day LB,Attwood J,Povey S,Humphries SE,Day IN

更新日期：1997-11-01 00:00:00

abstract：:Allelic transmission rates from parents to cases are frequently stratified by an environmental risk factor E and compared, with heterogeneity interpreted as gene-environment interaction or GxE. Though generally invalid, such analyses continue to appear. We revisit why heterogeneity is not equivalent to GxE in a range ...

journal_title：Annals of human genetics

authors： Shin JH,McNeney B,Graham J

更新日期：2010-09-01 00:00:00

abstract：:In the process of genetically mapping a complex disease, the question may arise whether a certain polymorphism is the only causal variant in a region. A number of methods can answer this question, but unfortunately these methods are optimal for bi-allelic loci only. We wanted to develop a method that is more suited fo...

journal_title：Annals of human genetics

authors： Spijker GT,Nolte IM,Jansen RC,Te Meerman GJ

更新日期：2005-01-01 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：:The use of IBD proportions from a large set of affected sib-pair data to estimate some or all of the main parameters describing the inheritance of a disease susceptibility gene is here considered. We assume there is no recombination present and neglect ascertainment bias, and assume that there are four distinct parent...

journal_title：Annals of human genetics

authors： Green JR,Shah S

更新日期：1996-03-01 00:00:00

abstract：:Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all...

journal_title：Annals of human genetics

authors： Pourová R,Janousek P,Jurovcík M,Dvoráková M,Malíková M,Rasková D,Bendová O,Leonardi E,Murgia A,Kabelka Z,Astl J,Seeman P

更新日期：2010-07-01 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：:Population samples from Liguria, Piacenza and Pavia provinces, and North Lombardy are compared for surnames and HLA gene frequencies. The genetic structure inferred from the principal coordinate analysis of surname frequencies is different from that inferred from HLA gene frequencies. The latter may represent ancient ...

journal_title：Annals of human genetics

authors： Guglielmino CR,De Silvestri A,Rossi A,De Micheli V

更新日期：1998-05-01 00:00:00

abstract：:A new AAT allele (PI Zbristol) has been discovered in a woman with an obstetric history of three perinatal deaths from fulminant liver disease and no living offspring. She and her father were both PI M1Zbristol heterozygotes. The Zbristol protein is active as a proteinase inhibitor but appeared to be deficient in the ...

journal_title：Annals of human genetics

authors： Lovegrove JU,Jeremiah S,Gillett GT,Temple IK,Povey S,Whitehouse DB

更新日期：1997-09-01 00:00:00

abstract：:Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...

journal_title：Annals of human genetics

authors： Osawa M,Yuasa I,Kitano T,Henke J,Kaneko M,Udono T,Saitou N,Umetsu K

更新日期：2001-01-01 00:00:00

abstract：:Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...

journal_title：Annals of human genetics

authors： Su WH,Shi ZH,Liu SL,Wang XD,Liu S,Ji Y

更新日期：2018-07-01 00:00:00

abstract：:A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, ...

journal_title：Annals of human genetics

authors： Momose Y,Aimi Y,Hirayama T,Kataoka M,Ono M,Yoshino H,Satoh T,Gamou S

更新日期：2015-03-01 00:00:00

abstract：:The marriages contracted between 1600 and 1850 in the parishes Vang and Slidre in the mountain valley of Valdres in Norway were investigated, using the information in the genealogical and local history of the parishes and in various public archives. The parishes functioned as a marriage isolate, in spite of regular co...

journal_title：Annals of human genetics

authors： Saugstad LF,Odegård O

更新日期：1977-05-01 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：:Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the ha...

journal_title：Annals of human genetics

authors： Faruq M,Magaña JJ,Suroliya V,Narang A,Murillo-Melo NM,Hernández-Hernández O,Srivastava AK,Mukerji M

更新日期：2017-09-01 00:00:00