Effect of malathion on the genetic material of human lymphocytes stimulated by phytohemagglutinin (PHA).

abstract：:A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was...

journal_title：Human genetics

authors： Bender K,Mauff G,Hitzeroth HW

更新日期：1977-09-22 00:00:00

abstract：:We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of sl...

journal_title：Human genetics

authors： Brehm A,Pereira L,Kivisild T,Amorim A

更新日期：2003-12-01 00:00:00

abstract：:HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping. The gene frequencies of the 52 index cases were compared with those obtained from the patients' normal h...

journal_title：Human genetics

authors： Couillin P,Kottler-Missonnier ML,Grisard MC,Hors J,Feingold J,Boué J,Boué A

更新日期：1980-01-01 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitiv...

journal_title：Human genetics

authors： Miura Y,Hiura M,Torigoe K,Numata O,Kuwahara A,Matsunaga M,Hasegawa S,Boku N,Ino H,Mardy S,Endo F,Matsuda I,Indo Y

更新日期：2000-09-01 00:00:00

abstract：:The simultaneous analysis of closely linked nucleotide substitutions has recently become possible. However, it is not known whether the construction of molecular haplotypes will be a generally useful strategy for nuclear genes. Furthermore, whereas mobility-shift methods are widely used for the discovery of nucleotide...

journal_title：Human genetics

authors： Peterson RJ,Goldman D,Long JC

更新日期：1999-02-01 00:00:00

abstract：:Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arteriosus, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examina...

journal_title：Human genetics

authors： Greenberg F,Crowder WE,Paschall V,Colon-Linares J,Lubianski B,Ledbetter DH

更新日期：1984-01-01 00:00:00

abstract：:Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal mus...

journal_title：Human genetics

authors： Holder E,Maeda M,Bies RD

更新日期：1996-02-01 00:00:00

abstract：:In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...

journal_title：Human genetics

authors： Tchirkov A,Bay JO,Pernin D,Bignon YJ,Rio P,Grancho M,Kwiatkowski F,Giollant M,Malet P,Verrelle P

更新日期：1997-12-01 00:00:00

abstract：:We have isolated an X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60%. This probe has been assigned to Xq28 by physical and genetic mapping and is very closely linked to DXS52, DXS15, and the coagulation factor VIII gene (F8C). The best estima...

journal_title：Human genetics

authors： Vincent A,Kretz C,Oberlé I,Mandel JL

更新日期：1989-04-01 00:00:00

abstract：:Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...

journal_title：Human genetics

authors： Prickett AR,Ishida M,Böhm S,Frost JM,Puszyk W,Abu-Amero S,Stanier P,Schulz R,Moore GE,Oakey RJ

更新日期：2015-03-01 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：:Serum samples from 170 unrelated individuals from the Suceava District of Roumania and from 199 unrelated individuals from Bucharest, Roumania were tested fro Gm(1,2,3,5,6,13,14,17,21) and Km(1)[Inv(1)]. Selected samples were also tested for Gm(15) and Gm(16). The frequencies of the three common Caucasoid haplotypes, ...

journal_title：Human genetics

authors： Johnson WE,Kohn PH,Steinberg AG

更新日期：1977-11-10 00:00:00

abstract：:Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns ...

journal_title：Human genetics

authors： Graffelman J,Balding DJ,Gonzalez-Neira A,Bertranpetit J

更新日期：2007-11-01 00:00:00

abstract：:Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...

journal_title：Human genetics

authors： McDonough CW,Bostrom MA,Lu L,Hicks PJ,Langefeld CD,Divers J,Mychaleckyj JC,Freedman BI,Bowden DW

更新日期：2009-12-01 00:00:00

abstract：:Stroke is a common complex trait and does not follow Mendelian pattern of inheritance. Gene-gene or gene-environment interactions may be responsible for the complex trait. How the interactions contribute to stroke is still under research. This study aimed to explore the association between gene-gene interactions and s...

journal_title：Human genetics

authors： Liu J,Sun K,Bai Y,Zhang W,Wang X,Wang Y,Wang H,Chen J,Song X,Xin Y,Liu Z,Hui R

更新日期：2009-06-01 00:00:00

abstract：:Cultured human fibroblasts and amniotic fluid cells (AF cells) were examined for the presence of steroid hormone receptors. In both cell types, the androgen (DHT) or glucocorticoid (dexamethasone) receptor was detected, but not the estrogen receptor. Binding parameters in fibroblasts were: for androgen: KD = 3.7 X 10(...

journal_title：Human genetics

authors： Bauknecht T

更新日期：1977-12-23 00:00:00

abstract：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:Hair morphology is a highly divergent phenotype among human populations. We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian population. However, these Southeast Asian popul...

journal_title：Human genetics

authors： Fujimoto A,Ohashi J,Nishida N,Miyagawa T,Morishita Y,Tsunoda T,Kimura R,Tokunaga K

更新日期：2008-09-01 00:00:00

abstract：:To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by ...

journal_title：Human genetics

authors： Matsuoka R,Kimura M,Scambler PJ,Morrow BE,Imamura S,Minoshima S,Shimizu N,Yamagishi H,Joh-o K,Watanabe S,Oyama K,Saji T,Ando M,Takao A,Momma K

更新日期：1998-07-01 00:00:00

abstract：:Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...

journal_title：Human genetics

authors： Kobayashi K,Kakinoki H,Fukushige T,Shaheen N,Terazono H,Saheki T

更新日期：1995-10-01 00:00:00

abstract：:The length of 44 silver-stained human autosomal pachytene complements was shown to vary from about 300 micrometer to at least 535 micrometer. The lengths of the individual 22 autosomal chromosomes of eight complements representing this interval was measured and the relative lengths calculated. For most of the chromoso...

journal_title：Human genetics

authors： Jørgensen AL,Bak AL

更新日期：1981-01-01 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：:DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...

journal_title：Human genetics

authors： Horai S,Inoue T,Matsunaga E

更新日期：1987-01-01 00:00:00

abstract：:A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported. ...

journal_title：Human genetics

authors： Käosaar ME,Mikelsaar AV,Talvik TA,Mikelsaar RV

更新日期：1976-09-10 00:00:00

abstract：:The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...

journal_title：Human genetics

authors： Bhat A,Koul A,Rai E,Sharma S,Dhar MK,Bamezai RN

更新日期：2007-06-01 00:00:00

abstract：:Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which ...

journal_title：Human genetics

authors： Grønskov K,Olsen JH,Sand A,Pedersen W,Carlsen N,Bak Jylling AM,Lyngbye T,Brøndum-Nielsen K,Rosenberg T

更新日期：2001-07-01 00:00:00

abstract：:An easy-to-use, simulation-based power calculator (ASP) for linkage analysis using sib-pair designs (concordant or discordant) has been developed and made publicly available via the Internet. The program employs a diallelic model for the trait locus, at which parental/offspring genotypes are simulated, assuming Hardy-...

journal_title：Human genetics

authors： Krawczak M

更新日期：2001-12-01 00:00:00

abstract：:The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...

journal_title：Human genetics

authors： Sofuni T,Tanabe K,Awa AA

更新日期：1980-01-01 00:00:00

abstract：:A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...

journal_title：Human genetics

authors： Millar DS,Grundy CB,Bignell P,Mitchell DC,Corden D,Woods P,Kakkar VV,Cooper DN

更新日期：1993-03-01 00:00:00

abstract：:Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...

journal_title：Human genetics

authors： Su LK,Kohlmann W,Ward PA,Lynch PM

更新日期：2002-07-01 00:00:00