Studies of the meiotic behavior of a translocation t(10;13)(q25;q11) in an oligospermic man.

abstract：:The difference in DNA content of peripheral lymphocytes from normal males, normal females, and an individual with a 48 (xxxy) chromosome constitution was determined by rapid flow microfluorometric techniques. A similar comparison was performed using tissue culture fibroblasts derived from an individual with a 49 (xxxx...

journal_title：Human genetics

authors： Cram LS,Lehman JM

更新日期：1977-06-30 00:00:00

abstract：:A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...

journal_title：Human genetics

authors： Wen WN,Lieu TL,Chang HJ,Wuu SW,Yau ML,Jan KY

更新日期：1981-01-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

journal_title：Human genetics

authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

更新日期：1995-07-01 00:00:00

abstract：:To improve the analysis of parentage testing with the additional technique of DNA polymorphisms, the usefulness of probe YNH24 was studied. The allele frequency distribution of restriction fragments detected by probe YNH24 on TaqI-digested genomic DNA from 100 unrelated individuals was determined. For this purpose, th...

journal_title：Human genetics

authors： van Eede PH,Cuypers TM,de Lange GG

更新日期：1990-03-01 00:00:00

abstract：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 00:00:00

abstract：:We investigated whether a G123-->A mutation causing a Gly40-->Ser substitution in exon 2 of the human glucagon receptor gene, which has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) and impaired glucose tolerance (IGT) in France and Sardinia with a prevalences as high as 4.6% and ...

journal_title：Human genetics

authors： Odawara M,Tachi Y,Yamashita K

更新日期：1996-12-01 00:00:00

abstract：:In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI...

journal_title：Human genetics

authors： Webb GC,Coggan M,Ichinose A,Board PG

更新日期：1989-01-01 00:00:00

abstract：:Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disord...

journal_title：Human genetics

authors： Traboulsee AL,Sadovnick AD,Encarnacion M,Bernales CQ,Yee IM,Criscuoli MG,Vilariño-Güell C

更新日期：2017-06-01 00:00:00

abstract：:We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

journal_title：Human genetics

authors： Lázaro C,Gaona A,Estivill X

更新日期：1994-03-01 00:00:00

abstract：:H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,...

journal_title：Human genetics

authors： Fraccaro M,Mayerová A,Wolf U,Bühler E,Gebauer J,Gilgenkrantz S,Lindsten J,Lo Curto F,Ritzén EM

更新日期：1982-01-01 00:00:00

abstract：:Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection. In particular, genes encoding human leukocyte antigens (HLA) have various alleles, haplotypes, or specif...

journal_title：Human genetics

authors： Li X,Price MA,He D,Kamali A,Karita E,Lakhi S,Sanders EJ,Anzala O,Amornkul PN,Allen S,Hunter E,Kaslow RA,Gilmour J,Tang J,IAVI Africa HIV Prevention Partnership.

更新日期：2014-09-01 00:00:00

abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

journal_title：Human genetics

authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

更新日期：2004-06-01 00:00:00

abstract：:In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...

journal_title：Human genetics

authors： Clark RP,Goff MR,MacDermot KD

更新日期：1990-11-01 00:00:00

abstract：:Although microsatellite typing is the dominant method in genome research and indirect gene diagnosis, precise relationships of exonic and adjacent simple repeat polymorphisms are not known. We investigated exon 2 sequences of HLA-DRB1 genes and their neighbouring (GT)n(GA)m repeats including the intervening single cop...

journal_title：Human genetics

authors： Epplen C,Santos EJ,Guerreiro JF,van Helden P,Epplen JT

更新日期：1997-03-01 00:00:00

abstract：:To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...

journal_title：Human genetics

authors： Zedenius J,Wallin G,Svensson A,Grimelius L,Höög A,Lundell G,Bäckdahl M,Larsson C

更新日期：1995-07-01 00:00:00

abstract：:The red (RCP) and green (GCP) color pigment genes are located in Xq28, a chromosomal region implicated in many genetic disorders. The restriction fragment length polymorphism (RFLP) we describe here will be useful for linkage analysis in these disorders. ...

journal_title：Human genetics

authors： Vits L,Willems PJ

更新日期：1992-11-01 00:00:00

abstract：:The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diag...

journal_title：Human genetics

authors： Simoni G,Fraccaro M,Arslanian A,Bacchetta M,Baccichetti C,Bignone FA,Cagiano A,Carbonara AO,Carozzi F,Cuoco C,Bricarelli FD,Dallapiccola B,Dalprà L,Carbone LD,Ferranti G,Filippi G,Frateschi M,Gimelli G,Gualtieri RM,

更新日期：1982-01-01 00:00:00

abstract：:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...

journal_title：Human genetics

authors： Stenson PD,Mort M,Ball EV,Evans K,Hayden M,Heywood S,Hussain M,Phillips AD,Cooper DN

更新日期：2017-06-01 00:00:00

abstract：:Genetic anticipation is the increased incidence, earlier onset, or increased severity of a disease in successive generations. Before the biological basis of anticipation had been demonstrated, the phenomenon was thought to be due to sampling bias, epigenetic effects, gene conversion, or recombinant events. Since then,...

journal_title：Human genetics

authors： Brown BW,Costello TJ,Hwang SJ,Strong LC

更新日期：2005-12-01 00:00:00

abstract：:Following the application of two-color fluorescence in-situ hybridization (FISH) to human interphase cells, we examined the replication timing of the fragile-X locus relative to the non-transcribed late replicating alpha-satellite region of chromosome-X, a built-in intracellular reference locus. In this assay, an unre...

journal_title：Human genetics

authors： Yeshaya J,Shalgi R,Shohat M,Avivi L

更新日期：1998-01-01 00:00:00

abstract：:Association studies for complex diseases based on pedigree haplotype or genotype data have received increasing attention in the last few years. The similarity tests are appealing for these studies because they take into account of the DNA structure, but they have blind areas on which significant association can not be...

journal_title：Human genetics

authors： Yuan A,Yue Q,Apprey V,Bonney G

更新日期：2007-08-01 00:00:00

abstract：:To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...

journal_title：Human genetics

authors： Ko YL,Ko YS,Wu SM,Teng MS,Chen FR,Hsu TS,Chiang CW,Lee YS

更新日期：1997-09-01 00:00:00

abstract：:Lower plasma levels of high-density lipoprotein cholesterol (HDL-C) are associated with the metabolic syndrome (insulin resistance, obesity, hypertension) and higher cardiovascular risk. Recent association studies have suggested rare alleles responsible for very low HDL-C levels. However, for individual cardiovascular...

journal_title：Human genetics

authors： Harrap SB,Wong ZY,Scurrah KJ,Lamantia A

更新日期：2006-06-01 00:00:00

abstract：:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...

journal_title：Human genetics

authors： Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JR

更新日期：1991-06-01 00:00:00

abstract：:Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...

journal_title：Human genetics

authors： Bartholomé K,Olek K,Trefz F

更新日期：1984-01-01 00:00:00

abstract：:Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...

journal_title：Human genetics

authors： Schönberger J,Kühler L,Martins E,Lindner TH,Silva-Cardoso J,Zimmer M

更新日期：2005-12-01 00:00:00

abstract：:We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data fro...

journal_title：Human genetics

authors： Mondal M,Bergström A,Xue Y,Calafell F,Laayouni H,Casals F,Majumder PP,Tyler-Smith C,Bertranpetit J

更新日期：2017-05-01 00:00:00

abstract：:Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained....

journal_title：Human genetics

authors： Li W,Sun J,Ling J,Li J,He C,Liu Y,Chen H,Men M,Niu Z,Deng Y,Li M,Li T,Wen J,Sang S,Li H,Wan Z,Richard EM,Chapagain P,Yan D,Liu XZ,Mei L,Feng Y

更新日期：2018-04-01 00:00:00

abstract：:Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we report three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. There were strong, but not always complete,...

journal_title：Human genetics

authors： Beckman LE,Van Landeghem GF,Sikström C,Beckman L

更新日期：1998-02-01 00:00:00

abstract：:The cellular origin of trisomy 7 in non-neoplastic kidney tissue specimens from 10 patients, seven with malignant tumors and three with non-neoplastic kidney diseases, was studied by the MAC (morphology antibody chromosomes) technique, which allows analysis of cellular morphology/histology, immunophenotype, and chromo...

journal_title：Human genetics

authors： Knuutila S,Larramendy ML,Elfving P,el-Rifai W,Miettinen A,Mitelman F

更新日期：1995-02-01 00:00:00