Chromosomal abnormalities in human sperm: comparisons among four healthy men.

abstract：:Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of tetrahydrobiopterin (BH4)-deficient phenylketonuria. Two single base alterations of PTPS cDNA, a C-to-T transition at nucleotide 259 and a novel A-to-G transition at nucleotide 155 (according to cDNA sequence), were identified in ...

journal_title：Human genetics

authors： Liu TT,Hsiao KJ

更新日期：1996-09-01 00:00:00

abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

journal_title：Human genetics

authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

更新日期：1992-05-01 00:00:00

abstract：:The karyotype of leukemic cells was studied in 88 acute nonlymphocytic leukemia (ANLL) patients. Chromosome abnormalities were discovered in 78.4% of all patients and in 72.5% of the 69 patients studied before treatment. Characteristic abnormalities: translocations 8;21, 15;17, 9;22 or 6;9, rearrangements of 11q, gain...

journal_title：Human genetics

authors： Prigogina EL,Fleischman EW,Puchkova GP,Mayakova SA,Volkova MA,Protasova AK,Frenkel MA

更新日期：1986-06-01 00:00:00

abstract：:Retroelements (REs) occupy up to 40% of the human genome. Newly integrated REs can change the pattern of expression of pre-existing host genes and therefore might play a significant role in evolution. In particular, human- and primate-specific REs could affect the divergence of the Hominoidea superfamily. A comparativ...

journal_title：Human genetics

authors： Buzdin A,Ustyugova S,Gogvadze E,Lebedev Y,Hunsmann G,Sverdlov E

更新日期：2003-05-01 00:00:00

abstract：:We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 ...

journal_title：Human genetics

authors： Casals T,Nunes V,Palacio A,Giménez J,Gaona A,Ibáñez N,Morral N,Estivill X

更新日期：1993-03-01 00:00:00

abstract：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 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：:Sarcoidosis is known to be a systemic granulomatous disorder characterized by a cell-mediated Th1-type inflammatory response. To identify a key genetic factor in the pathogenesis of sarcoidosis, we investigated single nucleotide polymorphisms within 10 candidate genes involved in type 1 immune process ( IFNA17, IFNB, ...

journal_title：Human genetics

authors： Akahoshi M,Ishihara M,Remus N,Uno K,Miyake K,Hirota T,Nakashima K,Matsuda A,Kanda M,Enomoto T,Ohno S,Nakashima H,Casanova JL,Hopkin JM,Tamari M,Mao XQ,Shirakawa T

更新日期：2004-04-01 00:00:00

abstract：:DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemi...

journal_title：Human genetics

authors： Oehme R,Kohne E,Horst J

更新日期：1985-01-01 00:00:00

abstract：:A clone with 47 chromosomes was observed in the bone marrow of a patient with aplastic anemia and found to be trisomic for chromosome 6. The abnormal clone was not observed in the peripheral blood. ...

journal_title：Human genetics

authors： Geraedts JP,Haak HL

更新日期：1976-12-29 00:00:00

abstract：:A highly polymorphic CA repeat was identified in a cosmid containing the 5' end of the NF2 tumour suppressor gene. This marker has proved useful in presymptomatic diagnosis in affected families. ...

journal_title：Human genetics

authors： Bourn D,Strachan T

更新日期：1995-06-01 00:00:00

abstract：:High-risk mucosal human papillomaviruses encode an E6 oncoprotein, which binds the cellular p53 tumor suppressor protein, thereby marking it for degradation through the ubiquitin-mediated pathway. A common p53 polymorphism at codon-72 of exon 4 results in translation to either arginine or proline. Recently reported da...

journal_title：Human genetics

authors： Tachezy R,Mikysková I,Saláková M,Van Ranst M

更新日期：1999-12-01 00:00:00

abstract：:High-density lipoprotein cholesterol (HDL-C) is a known inverse predictor of coronary heart disease (CHD) and is thus a potential therapeutic target. Cholesteryl ester transfer protein (CETP) is a key protein in HDL-C metabolism such that elevated CETP activity is associated with lower HDL-C. Currently available HDL-C...

journal_title：Human genetics

authors： McCaskie PA,Beilby JP,Chapman CM,Hung J,McQuillan BM,Thompson PL,Palmer LJ

更新日期：2007-05-01 00:00:00

abstract：:The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...

journal_title：Human genetics

authors： Gopinath S,Blair IP,Kennerson ML,Durnall JC,Nicholson GA

更新日期：2007-06-01 00:00:00

abstract：:The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...

journal_title：Human genetics

authors： Forbes SA,Richardson M,Brennan L,Arnason A,Bjornsson A,Campbell L,Moore G,Stanier P

更新日期：1995-03-01 00:00:00

abstract：:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...

journal_title：Human genetics

authors： Cai G,Cole SA,Haack K,Butte NF,Comuzzie AG

更新日期：2007-07-01 00:00:00

abstract：:CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...

journal_title：Human genetics

authors： Holmes SE,Wentzell JS,Seixas AI,Callahan C,Silveira I,Ross CA,Margolis RL

更新日期：2006-09-01 00:00:00

abstract：:A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...

journal_title：Human genetics

authors： Dziuba P,Dziekanowska D,Hübner H

更新日期：1976-03-12 00:00:00

abstract：:The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...

journal_title：Human genetics

authors： Stöhr H,Klein J,Gehrig A,Koehler MR,Jurklies B,Kellner U,Leo-Kottler B,Schmid M,Weber BH

更新日期：1999-01-01 00:00:00

abstract：:Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...

journal_title：Human genetics

authors： Yoshida S,Yamaji Y,Yoshida A,Noda Y,Kumano Y,Ishibashi T

更新日期：2005-05-01 00:00:00

abstract：:The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...

journal_title：Human genetics

authors： Kuwano A,Morimoto Y,Nagai T,Fukushima Y,Ohashi H,Hasegawa T,Kondo I

更新日期：1996-01-01 00:00:00

abstract：:Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms reduces the effort...

journal_title：Human genetics

authors： Lichter-Konecki U,Schlotter M,Konecki DS

更新日期：1994-09-01 00:00:00

abstract：:Studies on the segregation of the red blood cell determinant Xg in 12 families with X-linked inheritance of agammaglobulinemia (XLA) in 3-4 generations suggested linkage of Xg with XLA. One extensive pedigree of a Dutch family with XLA in eight generations was investigated for Xg and the quantitative polymorphism 12E7...

journal_title：Human genetics

authors： Mensink EJ,Schot JD,Tippett P,Ott J,Schuurman RK

更新日期：1984-01-01 00:00:00

abstract：:EagI and NotI linking libraries were prepared in the lambda vector, EMBL5, from the mouse-human somatic cell hybrid 1W1LA4.9, which contains human chromosomes 11 and Xp as the only human component. Individual clones containing human DNA were isolated by their ability to hybridise with total human DNA and digested with...

journal_title：Human genetics

authors： Pook MA,Thakrar R,Pottinger B,Harding B,Porteous D,van Heyningen V,Cowell J,Jones C,Povey S,Davies KE,Thakker RV

更新日期：1996-06-01 00:00:00

abstract：:A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...

journal_title：Human genetics

authors： Ramasawmy R,Kotea N,Lu C,Sayada C,Baligadoo S,Krishnamoorthy R

更新日期：1993-06-01 00:00:00

abstract：:A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...

journal_title：Human genetics

authors： Howell WM,Black DA

更新日期：1978-07-12 00:00:00

abstract：:Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...

journal_title：Human genetics

authors： Zeindl-Eberhart E,Grohé G,Klose J

更新日期：1987-12-01 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

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：:Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuola...

journal_title：Human genetics

authors： Campos-Xavier AB,Saraiva JM,Ribeiro LM,Munnich A,Cormier-Daire V

更新日期：2003-02-01 00:00:00