DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers.

abstract：:Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...

journal_title：Human genetics

authors： Malcolm S,de Saint Basile G,Arveiler B,Lau YL,Szabo P,Fischer A,Griscelli C,Debre M,Mandel JL,Callard RE

更新日期：1987-10-01 00:00:00

abstract：:A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated fro...

journal_title：Human genetics

authors： Beck S,Schmitt H,Shizuya H,Blin N,Gött P

更新日期：1996-08-01 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：: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：:In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR...

journal_title：Human genetics

authors： Dreesen JC,Geraedts JP,Dumoulin JC,Evers JL,Pieters MH

更新日期：1995-09-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. The HPS-1 gene has been mapped to chromosome 10q23.1-23.3 and encodes a 79-kDa p...

journal_title：Human genetics

authors： Huizing M,Anikster Y,Gahl WA

更新日期：2000-03-01 00:00:00

abstract：:Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...

journal_title：Human genetics

authors： Shen H,Pollin TI,Damcott CM,McLenithan JC,Mitchell BD,Shuldiner AR

更新日期：2009-10-01 00:00:00

abstract：:The author engages in further debate between numerous signatories of a letter who disputes that the author has put forward that the anticipated benefits of a personalised program for cancer prevention and screening are unwarranted. In the event that a cancer screening program is an effective means of mortality reducti...

journal_title：Human genetics

authors： Narod SA

更新日期：2019-03-01 00:00:00

abstract：:The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreo...

journal_title：Human genetics

authors： Weber G,Grimmond S,Lagercrantz J,Friedman E,Phelan C,Carson E,Hayward N,Jacobovitz O,Nordenskjöld M,Larsson C

更新日期：1997-01-01 00:00:00

abstract：:A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...

journal_title：Human genetics

authors： Schwaller J,Chen T,Fey MF,Tobler A

更新日期：1993-11-01 00:00:00

abstract：:Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene wit...

journal_title：Human genetics

authors： Krug T,Manso H,Gouveia L,Sobral J,Xavier JM,Albergaria I,Gaspar G,Correia M,Viana-Baptista M,Simões RM,Pinto AN,Taipa R,Ferreira C,Fontes JR,Silva MR,Gabriel JP,Matos I,Lopes G,Ferro JM,Vicente AM,Oliveira SA

更新日期：2010-03-01 00:00:00

abstract：:Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...

journal_title：Human genetics

authors： Ouma C,Davenport GC,Garcia S,Kempaiah P,Chaudhary A,Were T,Anyona SB,Raballah E,Konah SN,Hittner JB,Vulule JM,Ong'echa JM,Perkins DJ

更新日期：2012-02-01 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：:A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...

journal_title：Human genetics

authors： Cappa F,Caridi G,Gimelli G,Ghiggeri GM

更新日期：1995-05-01 00:00:00

abstract：:A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...

journal_title：Human genetics

authors： Jung U,Urner U,Grade K,Coutelle C

更新日期：1994-07-01 00:00:00

abstract：:The phenotype AK 3.3 in the isoenzyme system of human adenylate kinase has been found in two members of the Wayampi population of French Guiana. ...

journal_title：Human genetics

authors： Séger J,Tchen P,Feingold N,Grenand F,Bois E

更新日期：1978-09-19 00:00:00

abstract：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 00:00:00

abstract：:Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has util...

journal_title：Human genetics

authors： Howell RT,McDermott A

更新日期：1982-01-01 00:00:00

abstract：:Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these ge...

journal_title：Human genetics

authors： Xu R,Feng S,Li Z,Fu Y,Yin P,Ai Z,Liu W,Yu X,Li M

更新日期：2014-10-01 00:00:00

abstract：:A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...

journal_title：Human genetics

authors： Disteche CM,Brown L,Saal H,Friedman C,Thuline HC,Hoar DI,Pagon RA,Page DC

更新日期：1986-12-01 00:00:00

abstract：:A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...

journal_title：Human genetics

authors： Magenis RE,Wyandt HE,Overton KM,Macfarlane J

更新日期：1976-07-27 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：:To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 yea...

journal_title：Human genetics

authors： Li Q,Wojciechowski R,Simpson CL,Hysi PG,Verhoeven VJ,Ikram MK,Höhn R,Vitart V,Hewitt AW,Oexle K,Mäkelä KM,MacGregor S,Pirastu M,Fan Q,Cheng CY,St Pourcain B,McMahon G,Kemp JP,Northstone K,Rahi JS,Cumberland PM,M

更新日期：2015-02-01 00:00:00

abstract：:Out of a population of 138,598 infants born in southern Poland between 1987 and 1989, and screened for phenylketonuria (PKU), 28 cases were ascertained probands and their parents were isolated and eight polymorphic restriction sites were analyzed within the phenylalanine hydroxylase gene region. Twenty-one different h...

journal_title：Human genetics

authors： Zygulska M,Eigel A,Aulehla-Scholz C,Pietrzyk JJ,Horst J

更新日期：1991-01-01 00:00:00

abstract：:The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...

journal_title：Human genetics

authors： Tchen P,Bois E,Feingold J,Feingold N,Kaplan J

更新日期：1977-09-22 00:00:00

abstract：:Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a delet...

journal_title：Human genetics

authors： Harteveld CL,Kriek M,Bijlsma EK,Erjavec Z,Balak D,Phylipsen M,Voskamp A,di Capua E,White SJ,Giordano PC

更新日期：2007-11-01 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：:Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mappi...

journal_title：Human genetics

authors： Babbs C,Heller R,Everman DB,Crocker M,Twigg SR,Schwartz CE,Giele H,Wilkie AO

更新日期：2007-09-01 00:00:00

abstract：:A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of car...

journal_title：Human genetics

authors： Rosendaal FR,Bröcker-Vriends AH,van Houwelingen JC,Smit C,Varekamp I,van Dijck H,Suurmeijer TP,Vandenbroucke JP,Briët E

更新日期：1990-12-01 00:00:00