Population genetic characteristics of the D1S80 locus in seven human populations.

abstract：:Two previous single case reports from the literature showed the presence or absence of centromeric antigens at the site of the inactive centromeres in one (X;X) and in one (9;11) dicentric chromosome. We studied nine different dicentric chromosomes using anticentromeric antibodies and immunofluorescence techniques. In...

journal_title：Human genetics

authors： Peretti D,Maraschio P,Lambiase S,Lo Curto F,Zuffardi O

更新日期：1986-05-01 00:00:00

abstract：:In order to investigate the molecular basis of phenylketonuria (PKU) in Spain, we analyzed the restriction fragment length polymorphism (RFLP) haplotypes and common mutations in the phenylalanine hydroxylase (PAH) gene in 32 unrelated Spanish PKU families. The distribution of RFLP haplotypes differs from that of north...

journal_title：Human genetics

authors： Desviat LR,Pérez B,Ugarte M

更新日期：1993-10-01 00:00:00

abstract：:The phenotypes of glyoxalase I (GLO) were determined in a random population from Hessen (Germany) by high-voltage agarose gel electrophoresis. The gene frequencies in 1150 unrelated individuals were 0.4391 for GLO1 and 0.5609 fro GLO2. Rare phenotypes were not observed. The segregation of phenotypes in 50 families an...

journal_title：Human genetics

authors： Kühnl P,Schwabenland R,Spielmann W

更新日期：1977-08-31 00:00:00

abstract：:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

journal_title：Human genetics

authors： Ma AS,Grigg JR,Jamieson RV

更新日期：2019-09-01 00:00:00

abstract：:This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed. ...

journal_title：Human genetics

authors： Branković S,Laća Z,Dramusić V,Ivanović M,Morić-Petrović S

更新日期：1979-04-17 00:00:00

abstract：:Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...

journal_title：Human genetics

authors： Honda H,Miharu N,Samura O,He H,Ohama K

更新日期：2000-02-01 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...

journal_title：Human genetics

authors： Watanabe G,Umetsu K,Yuasa I,Suzuki T

更新日期：1997-01-01 00:00:00

abstract：:Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X synd...

journal_title：Human genetics

authors： Nobile V,Palumbo F,Lanni S,Ghisio V,Vitali A,Castagnola M,Marzano V,Maulucci G,De Angelis C,De Spirito M,Pacini L,D'Andrea L,Ragno R,Stazi G,Valente S,Mai A,Chiurazzi P,Genuardi M,Neri G,Tabolacci E

更新日期：2020-02-01 00:00:00

abstract：:Bone size (BS) is one of the major risk factors for osteoporotic fractures. BS variation is genetically determined to a substantial degree with heritability over 50%, but specific genes underlying variation of BS are still largely unknown. To identify specific genes for BS in Chinese, initial genome-wide association s...

journal_title：Human genetics

authors： Lei SF,Shen H,Yang TL,Guo Y,Dong SS,Xu XH,Deng FY,Tian Q,Liu YJ,Liu YZ,Li J,Deng HW

更新日期：2012-03-01 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：:The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short t...

journal_title：Human genetics

authors： Kayser M

更新日期：2017-05-01 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：: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：:We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The...

journal_title：Human genetics

authors： Yaspan BL,McReynolds KM,Elmore JB,Breyer JP,Bradley KM,Smith JR

更新日期：2008-05-01 00:00:00

abstract：:Vascular twin nevi, i.e., telangiectatic nevus and nevus anemicus occurring together and adjacent to each other, can be explained as twin spots resulting from a somatic recombination. It is so far unclear, however, whether the postulated underlying autosomal recessive mutations are allelic. This problem can be approac...

journal_title：Human genetics

authors： Happle R

更新日期：1991-01-01 00:00:00

abstract：:Coffin-Lowry syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes RSK2, a serine/threonine kinase acting in the MAPK/ERK pathway. The mouse invalidated for the Rps6ka3 (Rsk2-KO) gene displays learning and long-term spatial memory defi...

journal_title：Human genetics

authors： Mehmood T,Schneider A,Sibille J,Marques Pereira P,Pannetier S,Ammar MR,Dembele D,Thibault-Carpentier C,Rouach N,Hanauer A

更新日期：2011-03-01 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：:Chronic gastro-oesophageal reflux disease can induce a metaplastic change of the distal oesophagus called Barrett's oesophagus whereby the normal squamous epithelium is substituted by a columnar epithelium. Patients with Barrett's oesophagus are at increased risk of oesophageal adenocarcinoma which occurs through dysp...

journal_title：Human genetics

authors： di Pietro M,Fitzgerald RC

更新日期：2009-08-01 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：:DyeDeoxy terminator cycle sequencing of allele-specific polymerase chain reaction products has shown that there is a highly polymorphic d(AAAAT) pentanucleotide repeat within the first intron of the human p53 gene. This provides a genetic marker for tumor suppressor p53 gene alterations. ...

journal_title：Human genetics

authors： Hahn M,Fislage R,Pingoud A

更新日期：1995-04-01 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：: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：:Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures...

journal_title：Human genetics

authors： Dallapiccola B,Porfirio B,Mokini V,Alimena G,Isacchi G,Gandini E

更新日期：1985-01-01 00:00:00

abstract：:A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...

journal_title：Human genetics

authors： Bernheim A,Berger R,Vaugier G,Thieffry JC,Matet Y

更新日期：1979-04-17 00:00:00

abstract：:The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, an...

journal_title：Human genetics

authors： Notarangelo LD,Parolini O,Albertini A,Duse M,Mazzolari E,Plebani A,Camerino G,Ugazio AG

更新日期：1991-12-01 00:00:00

abstract：:Complementation tests after polyethylene glycol fusion have been performed between 10 citrullinemic strains with argininosuccinate synthetase deficiency and between five strains with argininosuccinate lyase deficiency. No complementation was observed between the citrullinemic strains, while two groups of complementati...

journal_title：Human genetics

authors： Cathelineau L,Pham Dinh D,Briand P,Kamoun P

更新日期：1981-01-01 00:00:00

abstract：:Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...

journal_title：Human genetics

authors： Nietzel A,Rocchi M,Starke H,Heller A,Fiedler W,Wlodarska I,Loncarevic IF,Beensen V,Claussen U,Liehr T

更新日期：2001-03-01 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：: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