AcroM fluorescent in situ hybridization analyses of marker chromosomes.

abstract：:A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1. ...

journal_title：Human genetics

authors： de Verneuil H,Grandchamp B,Foubert C,Weil D,N'Guyen VC,Gross MS,Sassa S,Nordmann Y

更新日期：1984-01-01 00:00:00

abstract：:A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal ...

journal_title：Human genetics

authors： Müller CR,Grimm T

更新日期：1986-10-01 00:00:00

abstract：:A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...

journal_title：Human genetics

authors： Magenis RE,Wyandt HE,Overton KM,Macfarlane J

更新日期：1976-07-27 00:00:00

abstract：:Five DNA probes known to originate from the region 7q22-q31 were sublocalized by in situ hybridization to metaphase preparations of fibroblasts having besides a normal chromosome 7, a homologue 7 with an apparent interstitial deletion of a large part of band q22. A flow cytometric chromosome analysis confirmed a loss ...

journal_title：Human genetics

authors： van der Hout AH,van der Veen AY,Aten JA,Buys CH

更新日期：1988-10-01 00:00:00

abstract：:The data of the chromosome abnormalities in 15 colorectal tumors are presented. Rearrangements of the short arm of chromosome 17, leading to deletions of this arm or its part were noted in 12 tumors; in 2 other cases, one of the homologs of pair 17 was lost. The losses of at least one homolog of other chromosomal pair...

journal_title：Human genetics

authors： Konstantinova LN,Fleischman EW,Knisch VI,Perevozchikov AG,Kopnin BP

更新日期：1991-03-01 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described in the rBAT gene sequence. To identify new mutated alleles, genomic DNA...

journal_title：Human genetics

authors： Bisceglia L,Calonge MJ,Dello Strologo L,Rizzoni G,de Sanctis L,Gallucci M,Beccia E,Testar X,Zorzano A,Estivill X,Zelante L,Palacin M,Gasparini P,Nunes V

更新日期：1996-10-01 00:00:00

abstract：:Multiple sclerosis (MS) is a common complex neurodegenerative disease of the central nervous system. It develops with autoimmune inflammation and demyelination. Genome-wide association studies (GWASs) serve as a powerful tool for investigating the genetic architecture of MS and are generally used to identify the genet...

journal_title：Human genetics

authors： Bashinskaya VV,Kulakova OG,Boyko AN,Favorov AV,Favorova OO

更新日期：2015-11-01 00:00:00

abstract：:A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...

journal_title：Human genetics

authors： Krasnopolskaya XD,Shatskaya TL

更新日期：1987-03-01 00:00:00

abstract：:The difference in DNA content of peripheral lymphocytes from normal males, normal females, and an individual with a 48 (xxxy) chromosome constitution was determined by rapid flow microfluorometric techniques. A similar comparison was performed using tissue culture fibroblasts derived from an individual with a 49 (xxxx...

journal_title：Human genetics

authors： Cram LS,Lehman JM

更新日期：1977-06-30 00:00:00

abstract：:Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for alpha1-antitrypsin (alpha1AT) variants by electrophoresis on agarose-polyacrylamide gels at pH 4.7 and isoelectric focusing (IEF). The frequencies of the Pi (Protease i...

journal_title：Human genetics

authors： Klasen EC,Franken C,Volkers WS,Bernini LF

更新日期：1977-07-26 00:00:00

abstract：:We investigated common length polymorphisms in the hypervariable region located 3' to the human gene encoding apolipoprotein B (APOB 3' HVR) as part of the "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)" study. PDAY is a multicenter study of young persons who died of external causes (accident, homici...

journal_title：Human genetics

authors： Hixson JE,Powers PK,McMahan CA

更新日期：1993-06-01 00:00:00

abstract：:Oxidative damage caused by reactive oxygen species (ROS) and other free radicals is involved in a number of pathological conditions including cancer. In a population-based case-control study of non-Hodgkin lymphoma (NHL) (n = 518 cases, 597 controls) among women in Connecticut, we analyzed one or more single nucleotid...

journal_title：Human genetics

authors： Lan Q,Zheng T,Shen M,Zhang Y,Wang SS,Zahm SH,Holford TR,Leaderer B,Boyle P,Chanock S

更新日期：2007-04-01 00:00:00

abstract：:The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

journal_title：Human genetics

authors： Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

更新日期：1997-05-01 00:00:00

abstract：:To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the ...

journal_title：Human genetics

authors： Keyser C,Bouakaze C,Crubézy E,Nikolaev VG,Montagnon D,Reis T,Ludes B

更新日期：2009-09-01 00:00:00

abstract：:We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data fro...

journal_title：Human genetics

authors： Mondal M,Bergström A,Xue Y,Calafell F,Laayouni H,Casals F,Majumder PP,Tyler-Smith C,Bertranpetit J

更新日期：2017-05-01 00:00:00

abstract：:Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...

journal_title：Human genetics

authors： Zakrzewski S,Koch M,Sperling K

更新日期：1983-01-01 00:00:00

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：:The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(...

journal_title：Human genetics

authors： Motegi T

更新日期：1981-01-01 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：:Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. Most existing HB gene therapies are based on viral mediated gene supplementation, which could increase immunoreaction. In this study, CRISPR/Cas9 system was used for gene correctio...

journal_title：Human genetics

authors： Huai C,Jia C,Sun R,Xu P,Min T,Wang Q,Zheng C,Chen H,Lu D

更新日期：2017-07-01 00:00:00

abstract：:Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1-15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in ...

journal_title：Human genetics

authors： Bala S,Kraus C,Wijnen J,Meera Khan P,Ballhausen WG

更新日期：1996-11-01 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：:Red blood cell esterase D (ESD) polymorphism was studied in a French-Canadian population from Quebec city, Canada, by means of high voltage electrophoresis on agarose gel followed, in heterozygotes for ESD 1, by IEF to reveal the possible allele ESD*5. Frequencies of the ESD alleles in 904 unrelated individuals were E...

journal_title：Human genetics

authors： Couture L,Chagnon M,Allard C,Bouchard C

更新日期：1986-07-01 00:00:00

abstract：:Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 comm...

journal_title：Human genetics

authors： Roychoudhury AK

更新日期：1977-12-29 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：:Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...

journal_title：Human genetics

authors： Mononen N,Ikonen T,Autio V,Rökman A,Matikainen MP,Tammela TL,Kallioniemi OP,Koivisto PA,Schleutker J

更新日期：2002-08-01 00:00:00

abstract：:In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI...

journal_title：Human genetics

authors： Webb GC,Coggan M,Ichinose A,Board PG

更新日期：1989-01-01 00:00:00

abstract：:The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...

journal_title：Human genetics

authors： Damcott CM,Feingold E,Moffett SP,Barmada MM,Marshall JA,Hamman RF,Ferrell RE

更新日期：2003-05-01 00:00:00

abstract：:As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...

journal_title：Human genetics

authors： Greiner J,Krüger J,Palden L,Jung EG,Vogel F

更新日期：1983-01-01 00:00:00