Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria.

abstract：:The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from ...

journal_title：Human genetics

authors： Cooke A,Gillard EF,Yates JR,Mitchell MJ,Aitken DA,Weir DM,Affara NA,Ferguson-Smith MA

更新日期：1988-05-01 00:00:00

abstract：:Population and family studies have confirmed the existence of a plasma alpha-L-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estimated at 11%. The low activity individuals or variants can also be distinguished by the fact that their ...

journal_title：Human genetics

authors： Willems PJ,Romeo E,Den Tandt WR,Van Elsen AF,Leroy JG

更新日期：1981-01-01 00:00:00

abstract：:This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...

journal_title：Human genetics

authors： Chen Y,Zhang J,Zhang L,Shen Y,Xu Q

更新日期：2012-07-01 00:00:00

abstract：:Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...

journal_title：Human genetics

authors： Reeves BR,Pickup VL

更新日期：1980-01-01 00:00:00

abstract：:Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans worldwide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (-13907, -13910 and -13915) of the lact...

journal_title：Human genetics

authors： Olds LC,Ahn JK,Sibley E

更新日期：2011-01-01 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have been successful in identifying and confirming novel genetic variants that are associated with diverse HIV phenotypes. However, these studies have predominantly focused on European cohorts. HLA molecules have been consistently associated with HIV outcomes, some of which have ...

journal_title：Human genetics

authors： Gingras SN,Tang D,Tuff J,McLaren PJ

更新日期：2020-06-01 00:00:00

abstract：:We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...

journal_title：Human genetics

authors： Kondo I,Yamamoto T,Yamakawa K,Shibasaki M,Hamaguchi H

更新日期：1985-01-01 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：:The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...

journal_title：Human genetics

authors： Oksche A,Möller A,Dickson J,Rosendahl W,Rascher W,Bichet DG,Rosenthal W

更新日期：1996-11-01 00:00:00

abstract：:A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restri...

journal_title：Human genetics

authors： Dry PJ

更新日期：1991-10-01 00:00:00

abstract：:A cDNA for the human catalytic subunit (C beta) of cAMP-dependent protein kinase (PKA) has been cloned from a testis cDNA library. In the present study, we have determined the chromosomal localization of this gene using a cDNA for C beta as a probe. Southern blot analysis of genomic DNA from human/mouse cell hybrids r...

journal_title：Human genetics

authors： Simard J,Bérubé D,Sandberg M,Grzeschik KH,Gagné R,Hansson V,Jahnsen T

更新日期：1992-03-01 00:00:00

abstract：:Neural tube defects (NTD) result from complex mechanisms between genes, nutrition and environment. The identification of genetic predictors by genome exome sequencing and their influence on genome methylation need further consideration. Gene variants related to 1-CM metabolism (1-CM) could influence the methylation of...

journal_title：Human genetics

authors： Renard E,Chéry C,Oussalah A,Josse T,Perrin P,Tramoy D,Voirin J,Klein O,Leheup B,Feillet F,Guéant-Rodriguez RM,Guéant JL

更新日期：2019-07-01 00:00:00

abstract：:We have used the polymerase chain reaction (PCR) technique for the diagnosis of hydatidiform mole, a trophoblastic disease. For this, we targeted the hypervariable 3' flanking region of the APOB gene (APOB/VNTR) because of its high heterozygosity index (0.61) in the Japanese population. We examined seven clinical case...

journal_title：Human genetics

authors： Fukuyama R,Takata M,Kudoh J,Sakai K,Tamura S,Shimizu N

更新日期：1991-06-01 00:00:00

abstract：:The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...

journal_title：Human genetics

authors： Forbes SA,Richardson M,Brennan L,Arnason A,Bjornsson A,Campbell L,Moore G,Stanier P

更新日期：1995-03-01 00:00:00

abstract：:Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...

journal_title：Human genetics

authors： Jiang Z,Akey JM,Shi J,Xiong M,Wang Y,Shen Y,Xu X,Chen H,Wu H,Xiao J,Lu D,Huang W,Jin L

更新日期：2001-07-01 00:00:00

abstract：:We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...

journal_title：Human genetics

authors： Yurov YB,Soloviev IV,Vorsanova SG,Marcais B,Roizes G,Lewis R

更新日期：1996-03-01 00:00:00

abstract：:Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...

journal_title：Human genetics

authors： Mowat AJ,Crompton M,Ziff JL,Aldren CP,Lavy JA,Saeed SR,Dawson SJ

更新日期：2018-05-01 00:00:00

abstract：:The karyotypes of four species of Cercopithecidae: Cercopithecus aethiops tantalus, C. sabaeus, Erythrocebus patas, and Miopithecus talapoin are analysed with nearly all the banding techniques. They are compared with each other, and with the karyotypes of the Baboon P. papio and with that of man. It can be concluded t...

journal_title：Human genetics

authors： Dutrillaux B,Viegas-Pequignot E,Couturier J,Chauvier G

更新日期：1978-12-29 00:00:00

abstract：:Chronic gastro-oesophageal reflux disease can induce a metaplastic change of the distal oesophagus called Barrett's oesophagus whereby the normal squamous epithelium is substituted by a columnar epithelium. Patients with Barrett's oesophagus are at increased risk of oesophageal adenocarcinoma which occurs through dysp...

journal_title：Human genetics

authors： di Pietro M,Fitzgerald RC

更新日期：2009-08-01 00:00:00

abstract：:Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. Most existing HB gene therapies are based on viral mediated gene supplementation, which could increase immunoreaction. In this study, CRISPR/Cas9 system was used for gene correctio...

journal_title：Human genetics

authors： Huai C,Jia C,Sun R,Xu P,Min T,Wang Q,Zheng C,Chen H,Lu D

更新日期：2017-07-01 00:00:00

abstract：:The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA methylation. Dysregulation of these genes causes a range of disorders affecting pre- and post-natal growth and neurological function. We investigated a cohort o...

journal_title：Human genetics

authors： Mackay DJ,Boonen SE,Clayton-Smith J,Goodship J,Hahnemann JM,Kant SG,Njølstad PR,Robin NH,Robinson DO,Siebert R,Shield JP,White HE,Temple IK

更新日期：2006-09-01 00:00:00

abstract：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

更新日期：2005-05-01 00:00:00

abstract：:In certain segments of human DNA, the methylation of deoxycytidine residues has been found to be highly specific and interindividually conserved. Imprinted DNA sequences in diploid primary cells show allele-specific differences in DNA methylation, usually with the active chromosomal regions being unmethylated and the ...

journal_title：Human genetics

authors： Kochanek S,Renz D,Doerfler W

更新日期：1994-08-01 00:00:00

abstract：:The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...

journal_title：Human genetics

authors： Crolla JA,Llerena JC Jr

更新日期：1988-12-01 00:00:00

abstract：:In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression m...

journal_title：Human genetics

authors： Polani PE

更新日期：1982-01-01 00:00:00

abstract：:The frequencies of base-line and Mitomycin-C (MMC) induced sister chromatid exchanges (SCE) were surveyed in four inbred strains of mice. In contrast to the C57Bl/6J, CBA/J, and A/J strains where frequencies of SCE increased linearly with increasing dose of MMC, levels of SCE were significantly lower in AKR/J mice at ...

journal_title：Human genetics

authors： Kram D,Schneider EL

更新日期：1978-02-23 00:00:00

abstract：:In our studies apolipoprotein E4 (APOE4) is associated with both early- and late-onset Alzheimer's disease. Alzheimer's patients from West Texas were screened for the APOE4 allele, which was found at frequencies of 0.43 and 0.59 in familial late- and early-onset cases. Sporadic cases had lower frequencies, but they st...

journal_title：Human genetics

authors： Poduslo SE,Riggs D,Schwankhaus J,Osborne A,Crawford F,Mullan M

更新日期：1995-11-01 00:00:00

abstract：:Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...

journal_title：Human genetics

authors： Nghiem PP,Kornegay JN

更新日期：2019-05-01 00:00:00

abstract：:We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B. ...

journal_title：Human genetics

authors： Morral N,Girbau E,Zielenski J,Nunes V,Casals T,Tsui LC,Estivill X

更新日期：1992-01-01 00:00:00