Origin of extra chromosome in Patau syndrome.

abstract：:N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...

journal_title：Human genetics

authors： Mashimo M,Suzuki T,Abe M,Deguchi T

更新日期：1992-09-01 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：:Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...

journal_title：Human genetics

authors： Bien SA,Su YR,Conti DV,Harrison TA,Qu C,Guo X,Lu Y,Albanes D,Auer PL,Banbury BL,Berndt SI,Bézieau S,Brenner H,Buchanan DD,Caan BJ,Campbell PT,Carlson CS,Chan AT,Chang-Claude J,Chen S,Connolly CM,Easton DF,Fesk

更新日期：2019-07-01 00:00:00

abstract：:Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromo...

journal_title：Human genetics

authors： Niebuhr E

更新日期：1978-06-09 00:00:00

abstract：:Susceptibility to viral bronchiolitis, the commonest cause of infant admissions to hospital in the industrialised world, is associated with polymorphism at the IL8 locus. Here we map the genomic boundaries of the disease association by case-control analysis and TDT in 580 affected UK infants. Markers for association m...

journal_title：Human genetics

authors： Hull J,Rowlands K,Lockhart E,Sharland M,Moore C,Hanchard N,Kwiatkowski DP

更新日期：2004-02-01 00:00:00

abstract：:TransferrinC (TfC) subtypes were determined by isoelectric focusing (PAGIF) on samples from 90 carriers of the TFB and TfD alleles. In all cases of CB and CD heterozygotes only one of the two common subtypes of the TfC allele, TfC1 or TfC2, was observed. This is considered strong support for the hypothesis of two comm...

journal_title：Human genetics

authors： Kühnl P,Spielmann W,Weber W

更新日期：1979-01-19 00:00:00

abstract：:The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods base...

journal_title：Human genetics

authors： Osborn MJ,Upadhyaya M

更新日期：1999-10-01 00:00:00

abstract：:Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...

journal_title：Human genetics

authors： Teng YS,Tan SG,Lopez CG,Ng T,Lie-Injo LE

更新日期：1978-04-24 00:00:00

abstract：:We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...

journal_title：Human genetics

authors： Kuribayashi F,de Boer M,Leusen JH,Verhoeven AJ,Roos D

更新日期：1996-05-01 00:00:00

abstract：:A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorp...

journal_title：Human genetics

authors： Sykes BC,Ogilvie DJ,Wordsworth BP

更新日期：1985-01-01 00:00:00

abstract：:The geographical distribution of 49 mtDNA sequences from 22 localities in Southern Tuscany, Italy, was studied by molecular analysis of variance, by a new spatial autocorrelation statistic specifically designed for sequence data and by reconstructing genealogies of haplotypes. All these methods indicated a high homoge...

journal_title：Human genetics

authors： Bertorelle G,Calafell F,Francalacci P,Bertranpetit J,Barbujani G

更新日期：1996-08-01 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：:Many recent studies have established that haplotype diversity in a small region may not be greatly diminished when the number of markers is reduced to a smaller set of "haplotype-tagging" single-nucleotide polymorphisms (SNPs) that identify the most common haplotypes. These studies are motivated by the assumption that...

journal_title：Human genetics

authors： Zhang W,Collins A,Morton NE

更新日期：2004-07-01 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：: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：:A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...

journal_title：Human genetics

authors： Siebert G,Kömpf J,Ritter H

更新日期：1980-01-01 00:00:00

abstract：:We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...

journal_title：Human genetics

authors： Crane AM,Martin LS,Valle D,Ledley FD

更新日期：1992-05-01 00:00:00

abstract：:Five families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five familie...

journal_title：Human genetics

authors： Kumar D,Blank CE,Gelsthorpe K

更新日期：1986-04-01 00:00:00

abstract：:The inactivated X chromosome has a site of unusually frequent folding in region Xq1, whereas a fold in Xq1 is uncommon on the active X. We investigated the pattern of X chromosome folding in high-resolution GTG- and RBG-stained preparations from four women. In early metaphase cells, slightly more than 50% of late-repl...

journal_title：Human genetics

authors： Van Dyke DL,Worsham M,Weiss L

更新日期：1987-09-01 00:00:00

abstract：:The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and ...

journal_title：Human genetics

authors： Kokkonen H,Kähkönen M,Leisti J

更新日期：1995-05-01 00:00:00

abstract：:The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles A...

journal_title：Human genetics

authors： Kömpf J,Siebert G,Ritter H

更新日期：1979-10-01 00:00:00

abstract：:It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the ...

journal_title：Human genetics

authors： Yuasa I,Suenaga K,Umetsu K,Ito K,Robinet-Levy M

更新日期：1987-11-01 00:00:00

abstract：:The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1. In the original report, all mutations were found in a narrow range of 27 base pairs within exons 11 and 12 which predicted an effect on the presumed allosteric...

journal_title：Human genetics

authors： Santer R,Kinner M,Passarge M,Superti-Furga A,Mayatepek E,Meissner T,Schneppenheim R,Schaub J

更新日期：2001-01-01 00:00:00

abstract：:Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal domina...

journal_title：Human genetics

authors： Yang Y,Guo J,Liu Z,Tang S,Li N,Yang M,Pang Q,Fan F,Bu J,Yuan ST,Xiao X,Chen Y,Zhao K

更新日期：2006-08-01 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...

journal_title：Human genetics

authors： Hes F,Zewald R,Peeters T,Sijmons R,Links T,Verheij J,Matthijs G,Leguis E,Mortier G,van der Torren K,Rosman M,Lips C,Pearson P,van der Luijt R

更新日期：2000-04-01 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：:Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...

journal_title：Human genetics

authors： Yamakawa-Kobayashi K,Kobayashi T,Obara T,Hamaguchi H

更新日期：1993-08-01 00:00:00

abstract：:Nucleolar fusion and nucleolus formation occurred simultaneously, immediately after mitosis, in cultured human lymphocytes. Evidence is presented that in late telophase and post-telophase, the individual nucleolar organising site includes two components, represented in post-telophase by the nucleolus and its attached ...

journal_title：Human genetics

authors： Gani R

更新日期：1978-06-27 00:00:00

abstract：:The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc v...

journal_title：Human genetics

authors： Thymann M,Hoste B,Scheffrahn W,Constans J,Cleve H

更新日期：1985-01-01 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