Induction of sister chromatid exchanges by hydroxylamine, hydrazine and isoniazid and their inhibition by cysteine.

abstract：:A new biallelic polymorphism for FokI restriction enzyme due to C----T transition in the fourth intron of human DRD2 is described. It must be a usefull marker of this candidate gene for several mental disorders. ...

journal_title：Human genetics

authors： Lu CY,Gérard N,Méreaux AG,Chaventré A,Joly JP,Elion J,Krishnamoorthy R

更新日期：1992-05-01 00:00:00

abstract：:Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore,...

journal_title：Human genetics

authors： Naumova AK,Al Tuwaijri A,Morin A,Vaillancourt VT,Madore AM,Berlivet S,Kohan-Ghadr HR,Moussette S,Laprise C

更新日期：2013-07-01 00:00:00

abstract：:Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...

journal_title：Human genetics

authors： Shatskaya TL,Krasnopolskaya KD,Idelson LJ

更新日期：1976-07-27 00:00:00

abstract：:Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of D4Z4 repeat on 4q35. It displays a remarkable inter- and intra-familial clinical variability ranging from severe phenotype to asymptomatic carriers. Mosaicism for the contracted FSHD-sized allele is a recurrent finding,...

journal_title：Human genetics

authors： Tonini MM,Lemmers RJ,Pavanello RC,Cerqueira AM,Frants RR,van der Maarel SM,Zatz M

更新日期：2006-03-01 00:00:00

abstract：:Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Viet...

journal_title：Human genetics

authors： Grant AV,Cobat A,Van Thuc N,Orlova M,Huong NT,Gaschignard J,Alter A,Ba NN,Thai VH,Abel L,Alcaïs A,Schurr E

更新日期：2014-07-01 00:00:00

abstract：:During population genetic studies in Korea a new variant in the 6-phosphogluconate (6-PGD) system preliminary called 6-PGDKorea was observed. ...

journal_title：Human genetics

authors： Benkmann HG,Paik YK,Chen LZ,Goedde HW

更新日期：1986-10-01 00:00:00

abstract：:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...

journal_title：Human genetics

authors： Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

更新日期：1989-06-01 00:00:00

abstract：:The cell morphology of long-term cultures of amniotic fluid cells from 10 fetuses with a neural tube defect (NTD) and three with omphalocele was examined and compared to 30 long-term cultures of normal amniotic fluids as well as a long-term culture of human fetal brain. Cultures from the amniotic fluids of the fetuses...

journal_title：Human genetics

authors： Medina-Gómez P,Johnston TH

更新日期：1982-01-01 00:00:00

abstract：:High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...

journal_title：Human genetics

authors： Xiao X,Sun W,Ouyang J,Li S,Jia X,Tan Z,Hejtmancik JF,Zhang Q

更新日期：2019-10-01 00:00:00

abstract：:The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to ...

journal_title：Human genetics

authors： Dittrich B,Robinson WP,Knoblauch H,Buiting K,Schmidt K,Gillessen-Kaesbach G,Horsthemke B

更新日期：1992-11-01 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：:Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...

journal_title：Human genetics

authors： Douabin-Gicquel V,Soriano N,Ferran H,Wojcik F,Palierne E,Tamim S,Jovelin T,McKie AT,Le Gall JY,David V,Mosser J

更新日期：2001-10-01 00:00:00

abstract：:The maternal age distribution of 45,X abortuses was significantly lower than that of chromosomally normal abortuses in two co-ordinated studies. One, carried out in Geneva, included 44 X-monosomic abortuses and the other, in Hiroshima, was based on 38 abortuses with a 45,X karyotype. It was deduced that 45,X conceptus...

journal_title：Human genetics

authors： Kajii T,Ohama K

更新日期：1979-10-01 00:00:00

abstract：:Haptoglobin phenotypes of 1121 unrelated Chinese blood donors in Beijing were determined. The gene frequency of Hp1 was 0.270. A rare variant, which we identified as Hp1S-J, was found. Two hundred and two samples of this population were submitted to haptoglobin subtyping, and no Hp1F allele was found among them. ...

journal_title：Human genetics

authors： Liang CC,Qi ZB,Ying QL,Wang LF

更新日期：1983-01-01 00:00:00

abstract：:Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic ...

journal_title：Human genetics

authors： Hanauer A,Alembik Y,Arveiler B,Formiga L,Gilgenkrantz S,Mandel JL

更新日期：1988-10-01 00:00:00

abstract：:We studied the frequency of an SstI polymorphism in 70 patients with chronic B-cell leukaemia (CLL) and 100 normal controls. There was a highly significant difference in the distribution of the three genotypes between the CLL patients and the normal controls (chi 2 = 13.46, 2 df, P < 0.001). The C2 allele was found mo...

journal_title：Human genetics

authors： Crossen PE,Morrison MJ

更新日期：1993-05-01 00:00:00

abstract：:Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis ...

journal_title：Human genetics

authors： Vekemans MJ,Perry TB

更新日期：1986-04-01 00:00:00

abstract：:Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the...

journal_title：Human genetics

authors： Ballabio A,Parenti G,Napolitano E,Di Natale P,Andria G

更新日期：1985-01-01 00:00:00

abstract：:Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen-debranching enzyme (AGL). Recent studies of the AGL gene have revealed the prevalent mutations in North African Jewish and Caucasian populations, but whether these common mutations are present in other...

journal_title：Human genetics

authors： Okubo M,Horinishi A,Takeuchi M,Suzuki Y,Sakura N,Hasegawa Y,Igarashi T,Goto K,Tahara H,Uchimoto S,Omichi K,Kanno H,Hayasaka K,Murase T

更新日期：2000-01-01 00:00:00

abstract：:Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive test...

journal_title：Human genetics

authors： Pagenstecher C,Wehner M,Friedl W,Rahner N,Aretz S,Friedrichs N,Sengteller M,Henn W,Buettner R,Propping P,Mangold E

更新日期：2006-03-01 00:00:00

abstract：:We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...

journal_title：Human genetics

authors： Lebo RV,Kan YW,Cheung MC,Carrano AV,Yu LC,Chang JC,Cordell B,Goodman HM

更新日期：1982-01-01 00:00:00

abstract：:In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...

journal_title：Human genetics

authors： el-Hazmi MA,Jabbar FA,Al-Swailem AR,Warsy AS

更新日期：1986-11-01 00:00:00

abstract：:During the 8 year-period 1971-1978 inclusive, 268 newborn with Down's syndrome (DS) were ascertained in Wallonia (South Belgium). The chromosomes of all patients were analyzed. A standard trisomy 21 was observed in 259 cases (96.6%) and translocations in seven (2.6%). One mosaic (0.4%) and one case with a 47,XX,+21,5 ...

journal_title：Human genetics

authors： Koulischer L,Gillerot Y

更新日期：1980-01-01 00:00:00

abstract：:A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...

journal_title：Human genetics

authors： Chockkalingam K,Board PG,Nurse GT

更新日期：1982-01-01 00:00:00

abstract：:High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences. One of its most prominent applications is the sequencing of whole genomes or targeted regions of the genome such as all exonic regions (i.e., the exome). Here, the objective is the identification of genetic variants such as single n...

journal_title：Human genetics

authors： Altmann A,Weber P,Bader D,Preuss M,Binder EB,Müller-Myhsok B

更新日期：2012-10-01 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：:Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalise...

journal_title：Human genetics

authors： Connell F,Kalidas K,Ostergaard P,Brice G,Homfray T,Roberts L,Bunyan DJ,Mitton S,Mansour S,Mortimer P,Jeffery S,Lymphoedema Consortium.

更新日期：2010-02-01 00:00:00

abstract：:Heteromorphisms of chromosomes 1, 9, and 16 were studied by C-banding in a population of 403 mentally retarded individuals from diverse ethnic groups. A significant difference in the distribution of heteromorphisms was found among the different racial groups. The Orientals had a larger C-band on chromosome 1 and a sma...

journal_title：Human genetics

authors： Matsuura J,Mayer M,Jacobs P

更新日期：1978-11-24 00:00:00

abstract：:The pachytene configurations formed in the ovary of a mosaic 18p-;iso 18q human foetus (22 weeks gestation) are analysed using a surface spreading technique. Three features of interest are the apparent meiotic delay of oocyte development, oocyte degeneration, and the triple pairing which occurs in one cell line when t...

journal_title：Human genetics

authors： Speed RM

更新日期：1986-03-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have primarily focused on marginal effects for individual markers and have incorporated external functional information only after identifying robust statistical associations. We applied a new approach combining the genetics of gene expression and functional classification of ge...

journal_title：Human genetics

authors： Zhang M,Liang L,Morar N,Dixon AL,Lathrop GM,Ding J,Moffatt MF,Cookson WO,Kraft P,Qureshi AA,Han J

更新日期：2012-04-01 00:00:00