PstI identifies biallelic DNA polymorphism of the human casein kinase 2 alpha gene (CSNK2A1).

abstract：:The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...

journal_title：Human genetics

authors： Hudson LL,Rocca K,Song YW,Pandey JP

更新日期：2002-10-01 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：:A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...

journal_title：Human genetics

authors： Barbi G,Steinbach P,Wiedenmann A,Vogel W

更新日期：1983-01-01 00:00:00

abstract：:Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX...

journal_title：Human genetics

authors： Jones AM,Clark PA,Katz F,Genet S,McMahon C,Alterman L,Cant A,Kinnon C

更新日期：1997-05-01 00:00:00

abstract：:A study was conducted on the feasibility of isolating genes and pseudogenes that map to chromosome 13 by a hybridization-based approach using a 13-specific library and pools of repeat-free cDNA clones. Five pairs of cDNA and chromosome 13 genomic clones were identified and characterized. Partial or full-length sequenc...

journal_title：Human genetics

authors： de Fatima Bonaldo M,Jelenc P,Su L,Lawton L,Yu MT,Warburton D,Soares MB

更新日期：1996-04-01 00:00:00

abstract：:Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...

journal_title：Human genetics

authors： Read AP,Thakker RV,Davies KE,Mountford RC,Brenton DP,Davies M,Glorieux F,Harris R,Hendy GN,King A

更新日期：1986-07-01 00:00:00

abstract：:Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...

journal_title：Human genetics

authors： De Braekeleer M,Hechtman P,Andermann E,Kaplan F

更新日期：1992-04-01 00:00:00

abstract：:The noninvasive method presented, using an "air culturing" technique, is capable of enriching for fetal cells in lymphocyte cultures of maternal blood. Through a combination of Y-body fluorescence and chromosomal heteromorphisms in the maternal blood, the fetal cells can be detected and used for the prenatal diagnosis...

journal_title：Human genetics

authors： Selypes A,Lorencz R

更新日期：1988-08-01 00:00:00

abstract：:Comparative in situ hybridization in various primate species has revealed a pseudoautosomal location for the human ANT3 gene and an X-specific location for the steroid sulfatase (STS) gene throughout the higher primate species up to the New World monkeys. However, ANT3 and STS map together on an autosome of two prosim...

journal_title：Human genetics

authors： Toder R,Rappold GA,Schiebel K,Schempp W

更新日期：1995-01-01 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 centromeric regions of cattle, goat and sheep chromosomes bind anti-5-MeC as revealed by immunofluorescence technique, indicating concentration of 5-MeC at these heterochromatic regions. The centromere of the submetacentric X of cattle remains nearly unstained and so do the centromeres of the acrocentric X chromos...

journal_title：Human genetics

authors： Schnedl W,Erlanger BF,Miller OJ

更新日期：1976-01-28 00:00:00

abstract：:A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization (FISH) techniques was used to map a series of DNA markers relative to the 1q21 breakpoint of the renal cell carcinoma (RCC)-associated (X;1)-(p11;q21) translocation. This breakpoint maps betw...

journal_title：Human genetics

authors： Weterman MA,Wilbrink M,Dijkhuizen T,van den Berg E,Geurts van Kessel A

更新日期：1996-07-01 00:00:00

abstract：:We present a linkage study in a four-generation autosomal dominant cerebellar ataxia (ADCA) family of Dutch ancestry. The family shows a clinically and genetically distinct form of ADCA. This neurodegenerative disorder manifests in the family as a relatively mild ataxia syndrome with some additional characteristic sym...

journal_title：Human genetics

authors： Verbeek DS,Schelhaas JH,Ippel EF,Beemer FA,Pearson PL,Sinke RJ

更新日期：2002-10-01 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：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:Albumin is a developmentally regulated serum protein synthesized in the liver mainly during adulthood. Family studies using variant forms of albumin established autosomal linkage between albumin and group-specific component protein (GS). Since GC has been assigned to human chromosome 4, albumin can be indirectly assig...

journal_title：Human genetics

authors： Kao FT,Hawkins JW,Law ML,Dugaiczyk A

更新日期：1982-01-01 00:00:00

abstract：:B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

journal_title：Human genetics

authors： Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

更新日期：1997-04-01 00:00:00

abstract：:Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...

journal_title：Human genetics

authors： Shen H,Pollin TI,Damcott CM,McLenithan JC,Mitchell BD,Shuldiner AR

更新日期：2009-10-01 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：:The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...

journal_title：Human genetics

authors： Kobayashi K,Ichiki H,Saheki T,Tatsuno M,Uchiyama C,Nukada O,Yoda T

更新日期：1987-05-01 00:00:00

abstract：:Copy number variations (CNVs) have provided a dynamic aspect to the apparently static human genome. We have analyzed CNVs larger than 100 kb in 477 healthy individuals from 26 diverse Indian populations of different linguistic, ethnic and geographic backgrounds. These CNVRs were identified using the Affymetrix 50K Xba...

journal_title：Human genetics

authors： Gautam P,Jha P,Kumar D,Tyagi S,Varma B,Dash D,Mukhopadhyay A,Indian Genome Variation Consortium.,Mukerji M

更新日期：2012-01-01 00:00:00

abstract：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

更新日期：2005-05-01 00:00:00

abstract：:Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, and have been designated...

journal_title：Human genetics

authors： Graham A,Kalsheker NA,Bamforth FJ,Newton CR,Markham AF

更新日期：1990-10-01 00:00:00

abstract：:Hereditary hemochromatosis (HFE) is an inherited disorder whose gene lies in the proximity of the histocompatibility antigen (HLA) class I region, on 6p21.3. Despite efforts in refining the HFE region, a number of informative DNA markers, linked to the disease locus and amenable to use in an assay based on the polymer...

journal_title：Human genetics

authors： Totaro A,Grifa A,Roetto A,Lunardi C,D'Agruma L,Sbaiz L,Zelante L,De Sandre G,Camaschella C,Gasparini P

更新日期：1995-04-01 00:00:00

abstract：:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...

journal_title：Human genetics

authors： Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama K

更新日期：1989-12-01 00:00:00

abstract：:The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplot...

journal_title：Human genetics

authors： Frisch A,Colombo R,Michaelovsky E,Karpati M,Goldman B,Peleg L

更新日期：2004-03-01 00:00:00

abstract：:In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfec...

journal_title：Human genetics

authors： Rose NJ,Mackay K,Byers PH,Dalgleish R

更新日期：1995-02-01 00:00:00

abstract：:Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, such mutations have recently been described in a few autistic patients. In this study, a large sample of individuals with a...

journal_title：Human genetics

authors： Beyer KS,Blasi F,Bacchelli E,Klauck SM,Maestrini E,Poustka A,International Molecular Genetic Study of Autism Consortium (IMGSAC).

更新日期：2002-10-01 00:00:00

abstract：:This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...

journal_title：Human genetics

authors： Hunter AG,Martsolf JT,Baker CG,Reed MH

更新日期：1978-02-16 00:00:00

abstract：:Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...

journal_title：Human genetics

authors： Shabtai F,Orlin J,Hart J,Halbrecht I,Klar D,Friedman J

更新日期：1986-09-01 00:00:00