Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

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：:rRNA gene activity was evaluated by cytologic methods in cultured human cells from two different tissues grown under controlled experimental conditions. The modal and average numbers of silver positive nucleolus organizers (NOs) per cell as well as the distribution of cells with different numbers of silver positive NO...

journal_title：Human genetics

authors： de Capoa A,Marlekaj P,Baldini A,Rocchi M,Archidiacono N

更新日期：1985-01-01 00:00:00

abstract：:The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia. Mutation analysis in 19 families of German, Swiss and Turkish descent by single-strand conformation polymorphism and sequencing resulted in the detection of seven ...

journal_title：Human genetics

authors： Schindelhauer D,Weiss M,Hellebrand H,Golla A,Hergersberg M,Seger R,Belohradsky BH,Meindl A

更新日期：1996-07-01 00:00:00

abstract：:Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of...

journal_title：Human genetics

authors： Fung DC,Yu B,Cheong KF,Smith A,Trent RJ

更新日期：1998-04-01 00:00:00

abstract：:COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-o...

journal_title：Human genetics

authors： Booth KT,Ghaffar A,Rashid M,Hovey LT,Hussain M,Frees K,Renkes EM,Nishimura CJ,Shahzad M,Smith RJ,Ahmed Z,Azaiez H,Riazuddin S

更新日期：2020-12-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenital...

journal_title：Human genetics

authors： Eichers ER,Abd-El-Barr MM,Paylor R,Lewis RA,Bi W,Lin X,Meehan TP,Stockton DW,Wu SM,Lindsay E,Justice MJ,Beales PL,Katsanis N,Lupski JR

更新日期：2006-09-01 00:00:00

abstract：:Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy b...

journal_title：Human genetics

authors： Böhme A,Cleve H,Schönitzer D,Reissigl H,Kazda S,Müller W

更新日期：1983-01-01 00:00:00

abstract：:H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,...

journal_title：Human genetics

authors： Fraccaro M,Mayerová A,Wolf U,Bühler E,Gebauer J,Gilgenkrantz S,Lindsten J,Lo Curto F,Ritzén EM

更新日期：1982-01-01 00:00:00

abstract：:The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Mautner VF,Cooper DN

更新日期：2017-04-01 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：:The incidence of exfoliated epithelial cells containing micronuclei was determined in two small human populations, one homozygous and the other heterozygous for the Bloom syndrome gene (bl). The objectives of the study were two: to learn whether the chromosome instability featured so prominently by Bloom syndrome (BS)...

journal_title：Human genetics

authors： Rosin MP,German J

更新日期：1985-01-01 00:00:00

abstract：:Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...

journal_title：Human genetics

authors： Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

更新日期：1992-05-01 00:00:00

abstract：:Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual ...

journal_title：Human genetics

authors： Bainbridge MN

更新日期：2020-05-01 00:00:00

abstract：:Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration, which has X-linked, autosomal recessive and autosomal dominant forms. The disease genes in families with autosomal dominant retinitis pigmentosa (adRP) have been linked to six loci, on 3q, 6p, 7p, 7q, 8q and 19q. In a large American fami...

journal_title：Human genetics

authors： McGuire RE,Gannon AM,Sullivan LS,Rodriguez JA,Daiger SP

更新日期：1995-01-01 00:00:00

abstract：:The genomic components identified by each of two closely related cDNA clones for the major 35 kilodalton non-serum surfactant-associated proteins (PSP-A) were shown to derive from human chromosome 10 by Southern blot analysis of DNAs from human-rodent somatic cell hybrids. By in situ hybridization to human metaphase c...

journal_title：Human genetics

authors： Bruns G,Stroh H,Veldman GM,Latt SA,Floros J

更新日期：1987-05-01 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：: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：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

journal_title：Human genetics

authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

更新日期：1996-10-01 00:00:00

abstract：:The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child a...

journal_title：Human genetics

authors： Olerup O,Luthman H,Ritzén EM,Haglund-Stengler B

更新日期：1990-10-01 00:00:00

abstract：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 00:00:00

abstract：:Ectodermal dysplasia syndromes are genetically heterogeneous group of disorders involving one or more of the classical ectodermal appendages (hair, nail, teeth, sweat glands) in association with anomalies of other organs or systems. In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplas...

journal_title：Human genetics

authors： Tariq M,Khan MN,Ahmad W

更新日期：2009-05-01 00:00:00

abstract：:Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of en...

journal_title：Human genetics

authors： Daniele A,Di Natale P

更新日期：1987-03-01 00:00:00

abstract：:Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are de...

journal_title：Human genetics

authors： Baird PN,Craig JE,Richardson AJ,Ring MA,Sim P,Stanwix S,Foote SJ,Mackey DA

更新日期：2003-02-01 00:00:00

abstract：:Single-copy DNA sequences defining several pseudoautosomal loci on the human sex chromosomes are shown to be highly conserved in the genome of the chimpanzee. Segregation analysis of polymorphic pseudoautosomal probes in a chimpanzee pedigree revealed that the transmission of the paternal alleles was not strictly sex-...

journal_title：Human genetics

authors： Weber B,Weissenbach J,Schempp W

更新日期：1988-11-01 00:00:00

abstract：:Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 614826), have been m...

journal_title：Human genetics

authors： Sun W,Li S,Jia X,Wang P,Hejtmancik JF,Xiao X,Zhang Q

更新日期：2020-08-01 00:00:00

abstract：:Chromosomal studies of the bone marrow and cultured peripheral blood cells in a 42-year-old female with the clinical and laboratory features typical for CML revealed a previously undescribed variant translocation involving chromosomes 12 and 22. ...

journal_title：Human genetics

authors： van der Blij-Philipsen M,Breed WP,Hustinx TW

更新日期：1977-11-10 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：: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：: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：:Multiple linkage regions have been reported in schizophrenia, and some appear to harbor susceptibility genes that are differentially expressed in postmortem brain tissue derived from unrelated individuals. We combined traditional genome-wide linkage analysis in a multiplex family with lymphocytic genome-wide expressio...

journal_title：Human genetics

authors： Vawter MP,Atz ME,Rollins BL,Cooper-Casey KM,Shao L,Byerley WF

更新日期：2006-06-01 00:00:00