PCR-based detection of one BamHI polymorphic site in the human T cell receptor delta gene TCRDV2.

abstract：:Using dual-laser sorted chromosomes and spot-blot analysis, we have previously assigned genomic DNA sequences coding for human alpha 1 (IV) procollagen to chromosome 13 (Pihlajaniemi et al. 1985). By in situ hybridization to normal chromosomes and chromosomes with 13q deletions, we now report the localization of this ...

journal_title：Human genetics

authors： Boyd CD,Weliky K,Toth-Fejel S,Deak SB,Christiano AM,Mackenzie JW,Sandell LJ,Tryggvason K,Magenis E

更新日期：1986-10-01 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：:A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a ...

journal_title：Human genetics

authors： Dallapiccola B,Chessa L,Vignetti P,Ferrante E,Gandini E

更新日期：1979-01-01 00:00:00

abstract：:Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify sing...

journal_title：Human genetics

authors： Levesque MC,Hobbs MR,O'Loughlin CW,Chancellor JA,Chen Y,Tkachuk AN,Booth J,Patch KB,Allgood S,Pole AR,Fernandez CA,Mwaikambo ED,Mutabingwa TK,Fried M,Sorensen B,Duffy PE,Granger DL,Anstey NM,Weinberg JB

更新日期：2010-02-01 00:00:00

abstract：:Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization. Three clinical variants ...

journal_title：Human genetics

authors： Ezquieta B,Oliver A,Gracia R,Gancedo PG

更新日期：1995-08-01 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：:HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular con...

journal_title：Human genetics

authors： Fujimori S,Hidaka Y,Davidson BL,Palella TD,Kelley WN

更新日期：1988-05-01 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：:An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described ...

journal_title：Human genetics

authors： Moller M,García-Cruz D,Rivera H,Sánchez-Corona J,Cantú JM

更新日期：1984-01-01 00:00:00

abstract：:We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by standard chromosomal analysis, her two uncles aged 28 and 30 years, respectively, with reduced intelligence and unusual appearance but not apparent Down syndrome, and a severely retarded 6-year-old girl with dysmorphy a...

journal_title：Human genetics

authors： Bartsch O,Hinkel GK,Petersen MB,König U,Bugge M,Mikkelsen M,Avramopoulos D,Morris M,Antonarakis SE

更新日期：1997-10-01 00:00:00

abstract：:Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...

journal_title：Human genetics

authors： Beaumont M,Akloul L,Carré W,Quélin C,Journel H,Pasquier L,Fradin M,Odent S,Hamdi-Rozé H,Watrin E,Dupé V,Dubourg C,David V

更新日期：2019-04-01 00:00:00

abstract：:Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows th...

journal_title：Human genetics

authors： Schleutker J,Haataja L,Renlund M,Puhakka L,Viitala J,Peltonen L,Aula P

更新日期：1991-11-01 00:00:00

abstract：:Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...

journal_title：Human genetics

authors： Nghiem PP,Kornegay JN

更新日期：2019-05-01 00:00:00

abstract：:Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...

journal_title：Human genetics

authors： Hitzeroth HW,Bender K

更新日期：1980-01-01 00:00:00

abstract：:Segregation analysis of informative families for chromosome 6 markers confirmed the map order GLO--Bf--HLA-(B, C)--HLA-A, and, surprisingly, implies that PGM3 is more probably located on the HLA-A than on the HLA-B side of the linkage group. Therefore the map position of PGM3 should be reconsidered, i.e., more informa...

journal_title：Human genetics

authors： Schunter F,Wernet P,Kömpf J,Bissbort S,Göhler F

更新日期：1978-11-16 00:00:00

abstract：:We wished to determine the time of pregnancy at which optimal numbers of nucleated red blood cells (NRBC) are present in maternal blood. Because 30% of the NRBC in maternal blood are fetal, there are implications for prenatal screening and diagnosis. Samples of whole blood were collected from each of 225 women at vari...

journal_title：Human genetics

authors： Shulman LP,Phillips OP,Tolley E,Sammons D,Wachtel SS

更新日期：1998-12-01 00:00:00

abstract：:Cytogenetic and molecular genetic findings in 91 patients with Turner syndrome are reported. In 87 patients, chromosome studies were carried out both in lymphocyte and fibroblast cultures. Mosaicism was demonstrated in 58 of these patients (66.7%), whereas only 18 (20.7%) were apparent non-mosaic 45,X, and 11 patients...

journal_title：Human genetics

authors： Held KR,Kerber S,Kaminsky E,Singh S,Goetz P,Seemanova E,Goedde HW

更新日期：1992-01-01 00:00:00

abstract：:Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...

journal_title：Human genetics

authors： De Stefano GF,Romano E,Ferrucci L

更新日期：1986-03-01 00:00:00

abstract：:A well defined polymorphism of vitamin D-binding/group-specific component (GC) residues in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1FC and GC*1FT by a C-T tran...

journal_title：Human genetics

authors： Yuasa I,Kofler A,Braun A,Umetsu K,Bichlmaier R,Kammerer S,Cleve H

更新日期：1995-05-01 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：:We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3...

journal_title：Human genetics

authors： Ain Q,Nazli S,Riazuddin S,Jaleel AU,Riazuddin SA,Zafar AU,Khan SN,Husnain T,Griffith AJ,Ahmed ZM,Friedman TB,Riazuddin S

更新日期：2007-12-01 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：:The gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12-13q22, the chromosome region wh...

journal_title：Human genetics

authors： Dryja TP,Rapaport JM,Weichselbaum R,Bruns GA

更新日期：1984-01-01 00:00:00

abstract：:A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined ...

journal_title：Human genetics

authors： Arnold H,Löhr GW,Hasslinger K,Ludwig R

更新日期：1981-01-01 00:00:00

abstract：:Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...

journal_title：Human genetics

authors： Wesdorp M,de Koning Gans PAM,Schraders M,Oostrik J,Huynen MA,Venselaar H,Beynon AJ,van Gaalen J,Piai V,Voermans N,van Rossum MM,Hartel BP,Lelieveld SH,Wiel L,Verbist B,Rotteveel LJ,van Dooren MF,Lichtner P,Kunst HPM,

更新日期：2018-05-01 00:00:00

abstract：:cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...

journal_title：Human genetics

authors： Singh S,Jantke I,Simon M,Meybohm I,Boldyreff B,Issinger O,Goedde HW

更新日期：1994-04-01 00:00:00

abstract：:A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted ...

journal_title：Human genetics

authors： Presneau N,Laplace-Marieze V,Sylvain V,Lortholary A,Hardouin A,Bernard-Gallon D,Bignon YJ

更新日期：1998-09-01 00:00:00

abstract：:Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...

journal_title：Human genetics

authors： Salomon J,Goulet O,Canioni D,Brousse N,Lemale J,Tounian P,Coulomb A,Marinier E,Hugot JP,Ruemmele F,Dufier JL,Roche O,Bodemer C,Colomb V,Talbotec C,Lacaille F,Campeotto F,Cerf-Bensussan N,Janecke AR,Mueller T,Kolet

更新日期：2014-03-01 00:00:00

abstract：:A non-alphoid repetitive DNA from human chromosome 22, consisting of a 48-bp motif, shows homology to both G-group chromosomes in the gorilla, thus indicating the presence of additional repeat family members on further human chromosomes. Therefore, we screened a chromosome-21-specific cosmid library using this repetit...

journal_title：Human genetics

authors： Müllenbach R,Lutz S,Holzmann K,Dooley S,Blin N

更新日期：1992-07-01 00:00:00

abstract：:In man a common fragile site is known to occur at 3p14. We studied the expression of this fragility in a group of 70 normal healthy subjects. Chromosome breaks, chromatid breaks and gaps at 3p14 could be observed in every examined individual, and in a total of 7000 metaphases they were seen in a mean of 4% of cells. F...

journal_title：Human genetics

authors： Smeets DF,Scheres JM,Hustinx TW

更新日期：1986-03-01 00:00:00