Direct estimation of serological H-Y antigen by flow cytometry.

abstract：:As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...

journal_title：Human genetics

authors： Schaid DJ,Sinnwell JP,McDonnell SK,Thibodeau SN

更新日期：2013-11-01 00:00:00

abstract：:Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...

journal_title：Human genetics

authors： Hayward NK,Keegan R,Nancarrow DJ,Little MH,Smith PJ,Gardiner RA,Seymour GJ,Kidson C,Lavin MF

更新日期：1988-02-01 00:00:00

abstract：:Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed ...

journal_title：Human genetics

authors： Cowell JK,Rutland P,Jay M,Hungerford J

更新日期：1986-02-01 00:00:00

abstract：:We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...

journal_title：Human genetics

authors： Naritomi Y,Naito Y,Nakashima H,Yokota E,Imamura T

更新日期：1988-09-01 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 epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...

journal_title：Human genetics

authors： Czeizel A,Vitéz M

更新日期：1981-01-01 00:00:00

abstract：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 00:00:00

abstract：:The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constru...

journal_title：Human genetics

authors： Clementi M,Murgia A,Anglani F,Tenconi R,Turolla L,Picci L,Zacchello F

更新日期：1991-05-01 00:00:00

abstract：:We describe a comparative study of the behavior of nucleolar structures and their relationship with nucleolar chromosomes and synaptonemal complexes at first meiotic prophase of human oocytes in an attempt to elucidate the nature of this cellular organization and to learn more about maternal nondisjunction. The number...

journal_title：Human genetics

authors： García M,Dietrich A,Pujol R,Egozcue J

更新日期：1989-05-01 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：: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 neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the prop...

journal_title：Human genetics

authors： Voullaire LE,Webb GC,Leversha MA

更新日期：1987-06-01 00:00:00

abstract：:Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferen...

journal_title：Human genetics

authors： Casals T,Bassas L,Ruiz-Romero J,Chillón M,Giménez J,Ramos MD,Tapia G,Narváez H,Nunes V,Estivill X

更新日期：1995-02-01 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：:A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...

journal_title：Human genetics

authors： Petersen GB,Sørensen IJ,Buskjaer L,Lamm LU

更新日期：1979-01-01 00:00:00

abstract：:We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...

journal_title：Human genetics

authors： Marchese CA,Lin MS,Wilson MG

更新日期：1984-01-01 00:00:00

abstract：:There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...

journal_title：Human genetics

authors： Ellis JA,Scurrah KJ,Duncan AE,Lamantia A,Byrnes GB,Harrap SB

更新日期：2007-04-01 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：:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...

journal_title：Human genetics

authors： Pérez-Castillo A,Martín-Lucas MA,Abrisqueta JA

更新日期：1986-01-01 00:00:00

abstract：:Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to ...

journal_title：Human genetics

authors： Gamazon ER,Stranger BE

更新日期：2014-06-01 00:00:00

abstract：:A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 00:00:00

abstract：:A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine a...

journal_title：Human genetics

authors： Verellen-Dumoulin C,Freund M,De Meyer R,Laterre C,Frédéric J,Thompson MW,Markovic VD,Worton RG

更新日期：1984-01-01 00:00:00

abstract：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

journal_title：Human genetics

authors： González R,Estrada M,García M,Gutierrez A

更新日期：1980-01-01 00:00:00

abstract：:A large partially inbred kindred segregating Tangier disease is analyzed for linkage to seventeen informative markers. Three criteria were developed to classify heterozygotes and each criterion's validity was subsequently evaluated by assessing the pedigree distribution of diagnoses for internal consistency. The resul...

journal_title：Human genetics

authors： Suarez BK,Schonfeld G,Sparkes RS

更新日期：1982-01-01 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine. We have rece...

journal_title：Human genetics

authors： Raz T,Barrett T,Szargel R,Mandel H,Neufeld EJ,Nosaka K,Viana MB,Cohen N

更新日期：1998-10-01 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：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

journal_title：Human genetics

authors： Müller CR,Migl B,Traupe H,Ropers HH

更新日期：1980-01-01 00:00:00

abstract：:A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...

journal_title：Human genetics

authors： Brunner HG,van Bennekom A,Lambermon EM,Oei TL,Cremers WR,Wieringa B,Ropers HH

更新日期：1988-12-01 00:00:00

abstract：:A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...

journal_title：Human genetics

authors： Viersbach R,Schwanitz G,Nöthen MM

更新日期：1994-06-01 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