Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD Kirovograd and G6PD Zhitomir.

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：:A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of th...

journal_title：Human genetics

authors： Wijsman EM

更新日期：1984-01-01 00:00:00

abstract：:A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...

journal_title：Human genetics

authors： Krasnopolskaya XD,Shatskaya TL

更新日期：1987-03-01 00:00:00

abstract：:Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of some genomic regions. We propose normative inversion of face shape, oppo...

journal_title：Human genetics

authors： Hammond P,McKee S,Suttie M,Allanson J,Cobben JM,Maas SM,Quarrell O,Smith AC,Lewis S,Tassabehji M,Sisodiya S,Mattina T,Hennekam R

更新日期：2014-09-01 00:00:00

abstract：:The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK fr...

journal_title：Human genetics

authors： Etiemble J,Picat C,Boivin P

更新日期：1982-01-01 00:00:00

abstract：:Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in ...

journal_title：Human genetics

authors： Waltes R,Duketis E,Knapp M,Anney RJ,Huguet G,Schlitt S,Jarczok TA,Sachse M,Kämpfer LM,Kleinböck T,Poustka F,Bölte S,Schmötzer G,Voran A,Huy E,Meyer J,Bourgeron T,Klauck SM,Freitag CM,Chiocchetti AG

更新日期：2014-06-01 00:00:00

abstract：:Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...

journal_title：Human genetics

authors： Nietzel A,Rocchi M,Starke H,Heller A,Fiedler W,Wlodarska I,Loncarevic IF,Beensen V,Claussen U,Liehr T

更新日期：2001-03-01 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：: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：:A family is reported in which the mother and two sons are carriers of a Y-to-X translocation, der (X)t(X;Y) (p22;q11). All the the three carriers have short stature and disproportion of extremities, but otherwise normal phenotype. One of the sons, the propositus, has been affected with schizophrenia. Evidence was obta...

journal_title：Human genetics

authors： Yamada K,Nanko S,Hattori S,Isurugi K

更新日期：1982-01-01 00:00:00

abstract：:Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs)....

journal_title：Human genetics

authors： Woodbury-Smith M,Paterson AD,Thiruvahindrapduram B,Lionel AC,Marshall CR,Merico D,Fernandez BA,Duku E,Sutcliffe JS,O'Conner I,Chrysler C,Thompson A,Kellam B,Tammimies K,Walker S,Yuen RK,Uddin M,Howe JL,Parlier M,Whi

更新日期：2015-02-01 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：:Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. The 21 intragenic duplications detected account for 7.9% of the total. Among these, one du...

journal_title：Human genetics

authors： Galvagni F,Saad FA,Danieli GA,Miorin M,Vitiello L,Mostacciuolo ML,Angelini C

更新日期：1994-07-01 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 karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...

journal_title：Human genetics

authors： Müller G,Schempp W

更新日期：1989-04-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...

journal_title：Human genetics

authors： Perrichot RA,Mercier B,Simon PM,Whebe B,Cledes J,Ferec C

更新日期：1999-09-01 00:00:00

abstract：:Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-ampl...

journal_title：Human genetics

authors： Daimon M,Gojyou E,Sugawara M,Yamatani K,Tominaga M,Sasaki H

更新日期：1997-02-01 00:00:00

abstract：:Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...

journal_title：Human genetics

authors： Mononen N,Ikonen T,Autio V,Rökman A,Matikainen MP,Tammela TL,Kallioniemi OP,Koivisto PA,Schleutker J

更新日期：2002-08-01 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：:We have studied the allele frequency distribution of the microsatellite locus DYS19 in several populations with different geographical origins worldwide. Three new alleles were found. In addition, remarkable geographic and ethnic differences were observed in the allele frequency profiles and DNA marker (gene) diversit...

journal_title：Human genetics

authors： Santos FR,Gerelsaikhan T,Munkhtuja B,Oyunsuren T,Epplen JT,Pena SD

更新日期：1996-03-01 00:00:00

abstract：:Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discusse...

journal_title：Human genetics

authors： MacDonald IM,Cox DM

更新日期：1985-01-01 00:00:00

abstract：:A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thoug...

journal_title：Human genetics

authors： McKie JM,Sutherland HF,Harvey E,Kim UJ,Scambler PJ

更新日期：1997-11-01 00:00:00

abstract：:A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. ...

journal_title：Human genetics

authors： Piantanida M,Dellavecchia C,Floridia G,Giglio S,Hoeller H,Dordi B,Danesino C,Schinzel A,Zuffardi O

更新日期：1997-06-01 00:00:00

abstract：:While it is widely appreciated that prostate cancers vary substantially in their propensity to progress to a life-threatening stage, the molecular events responsible for this progression have not been identified. Understanding these molecular mechanisms could provide important prognostic information relevant to more e...

journal_title：Human genetics

authors： Schaid DJ,McDonnell SK,Zarfas KE,Cunningham JM,Hebbring S,Thibodeau SN,Eeles RA,Easton DF,Foulkes WD,Simard J,Giles GG,Hopper JL,Mahle L,Moller P,Badzioch M,Bishop DT,Evans C,Edwards S,Meitz J,Bullock S,Hope Q,G

更新日期：2006-11-01 00:00:00

abstract：:Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutat...

journal_title：Human genetics

authors： Evans SC,Mims B,McMasters KM,Foster CJ,deAndrade M,Amos CI,Strong LC,Lozano G

更新日期：1998-06-01 00:00:00

abstract：:Complementation tests after polyethylene glycol fusion have been performed between 10 citrullinemic strains with argininosuccinate synthetase deficiency and between five strains with argininosuccinate lyase deficiency. No complementation was observed between the citrullinemic strains, while two groups of complementati...

journal_title：Human genetics

authors： Cathelineau L,Pham Dinh D,Briand P,Kamoun P

更新日期：1981-01-01 00:00:00

abstract：:The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles A...

journal_title：Human genetics

authors： Kömpf J,Siebert G,Ritter H

更新日期：1979-10-01 00:00:00

abstract：:Microsatellite markers RS46 (DXS548) and FRAXAC2 flanking the fragile X mutation, an expansion of a (CGG)n repeat within the FMR-1 gene, were typed in 60 unrelated northern and eastern Finnish fragile X families and in a control population from the same geographical region. A significant difference was found in alleli...

journal_title：Human genetics

authors： Haataja R,Väisänen ML,Li M,Ryynänen M,Leisti J

更新日期：1994-11-01 00:00:00

abstract：:C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...

journal_title：Human genetics

authors： Scacchi R,Corbo RM,Spennati G,Palmarino R

更新日期：1979-04-05 00:00:00