Detection of amplified genomic sequences in human small-cell lung carcinoma cells by arbitrarily primed-PCR genomic fingerprinting.

abstract：:We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy (DM). A peak lod score of 9.29 at 2 cM was observed for APOC1-DM, with a lod score of 8.55 at 4 cM for CYP2A-DM. These two markers also show close li...

journal_title：Human genetics

authors： Walsh KV,Harley HG,Brook JD,Rundle SA,Sarfarazi M,Harper PS,Shaw DJ

更新日期：1990-08-01 00:00:00

abstract：:rRNA gene activity was evaluated by cytologic methods in cultured human cells from two different tissues grown under controlled experimental conditions. The modal and average numbers of silver positive nucleolus organizers (NOs) per cell as well as the distribution of cells with different numbers of silver positive NO...

journal_title：Human genetics

authors： de Capoa A,Marlekaj P,Baldini A,Rocchi M,Archidiacono N

更新日期：1985-01-01 00:00:00

abstract：:Hereditary ovalocytosis in Papua New Guinea is restricted to areas of endemic malaria and may confer increased resistance to the disease. The incidence of malaria was investigated in 1616 Melanesiams of known red cell morphology and severity of infection determined in a smaller subsample. Ovalocytics tended to be more...

journal_title：Human genetics

authors： Serjeantson S,Bryson K,Amato D,Babona D

更新日期：1977-06-30 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：:Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesiz...

journal_title：Human genetics

authors： Tian T,Lei Y,Chen Y,Karki M,Jin L,Finnell RH,Wang L,Ren A

更新日期：2020-10-01 00:00:00

abstract：:The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK fr...

journal_title：Human genetics

authors： Etiemble J,Picat C,Boivin P

更新日期：1982-01-01 00:00:00

abstract：:We report clinical and molecular findings in 15 Japanese mosaic females with r(X) chromosomes, 45,X/46,X,r(X), confirmed by fluorescence in situ hybridization (FISH) analysis for DXZ1 and whole X chromosome painting. Cases 1-3, 5-7, and 11-13 had mental retardation (MR), the remaining cases being free from MR. FISH an...

journal_title：Human genetics

authors： Matsuo M,Muroya K,Adachi M,Tachibana K,Asakura Y,Nakagomi Y,Hanaki K,Yokoya S,Yoshizawa A,Igarashi Y,Hanew K,Matsuo N,Ogata T

更新日期：2000-11-01 00:00:00

abstract：:Gene-gene and gene-environment interactions govern a substantial portion of the variation in complex traits and diseases. In convention, a set of either unrelated or family samples are used in detection of such interactions; even when both kinds of data are available, the unrelated and the family samples are analyzed ...

journal_title：Human genetics

authors： Chen GB,Liu N,Klimentidis YC,Zhu X,Zhi D,Wang X,Lou XY

更新日期：2014-02-01 00:00:00

abstract：:The DNA ancestry testing industry is more than a decade old, yet details about it remain a mystery: there remain no reliable, empirical data on the number, motivations, and attitudes of customers to date, the number of products available and their characteristics, or the industry customs and standard practices that ha...

journal_title：Human genetics

authors： Wagner JK,Weiss KM

更新日期：2012-01-01 00:00:00

abstract：:Anderson Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. Hemizygous males and some heterozygous females develop renal failure and cardiovascular complications in early adult life. We have investigated six large UK families to assess the possible linkage of five polym...

journal_title：Human genetics

authors： MacDermot KD,Morgan SH,Cheshire JK,Wilson TM

更新日期：1987-11-01 00:00:00

abstract：:In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...

journal_title：Human genetics

authors： Müller G,Schempp W

更新日期：1989-04-01 00:00:00

abstract：:The size of the heterochromatic regions of chromosomes 1 and 16 was measured in a Test group of women with histories of recurrent spontaneous abortion and a Control group of fertile women. Measurements were made on Giemsa banded preparations and the euchromatic regions of 1q and 16q were used to correct for between-ce...

journal_title：Human genetics

authors： Ford JH,Callen DF,Roberts CG,Jahnke AB

更新日期：1983-01-01 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：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 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 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：: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：:In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...

journal_title：Human genetics

authors： Clark RP,Goff MR,MacDermot KD

更新日期：1990-11-01 00:00:00

abstract：:We identified two informative polymorphisms in the transcribed 3' untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the polymerase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These polymorphisms demonstrated Mendelian inheritance and were useful ...

journal_title：Human genetics

authors： Kaufman BA,White PS,Steinbrueck T,Donis-Keller H,Brodeur GM

更新日期：1994-10-01 00:00:00

abstract：:Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous. In an attempt to determine t...

journal_title：Human genetics

authors： Parfait B,Percheron A,Chretien D,Rustin P,Munnich A,Rötig A

更新日期：1997-12-01 00:00:00

abstract：:Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...

journal_title：Human genetics

authors： Tomatsu S,Fukuda S,Cooper A,Wraith JE,Uchiyama A,Hori T,Nakashima Y,Yamada N,Sukegawa K,Kondo N

更新日期：1995-04-01 00:00:00

abstract：:Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22...

journal_title：Human genetics

authors： Mehraein Y,Wippermann CF,Michel-Behnke I,Nhan Ngo TK,Hillig U,Giersberg M,Aulepp U,Barth H,Fritz B,Rehder H

更新日期：1997-04-01 00:00:00

abstract：:Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...

journal_title：Human genetics

authors： David D,Marques B,Ferreira C,Araújo C,Vieira L,Soares G,Dias C,Pinto M

更新日期：2013-11-01 00:00:00

abstract：:The karyotypes of four species of Cercopithecidae: Cercopithecus aethiops tantalus, C. sabaeus, Erythrocebus patas, and Miopithecus talapoin are analysed with nearly all the banding techniques. They are compared with each other, and with the karyotypes of the Baboon P. papio and with that of man. It can be concluded t...

journal_title：Human genetics

authors： Dutrillaux B,Viegas-Pequignot E,Couturier J,Chauvier G

更新日期：1978-12-29 00:00:00

abstract：:Therapeutic interventions that lower LDL-cholesterol effectively reduce the risk of coronary artery disease (CAD). However, statins, the most widely prescribed LDL-cholesterol lowering drugs, increase diabetes risk. We used genome-wide association study (GWAS) data in the public domain to investigate the relationship ...

journal_title：Human genetics

authors： Tragante V,Asselbergs FW,Swerdlow DI,Palmer TM,Moore JH,de Bakker PIW,Keating BJ,Holmes MV

更新日期：2016-05-01 00:00:00

abstract：:Schizophrenia (SCZ) is a severe psychiatric illness with a lifetime prevalence of 0.4 %. A disturbance of energy metabolism has been suggested as part of the etiopathogenesis of the disorder. Several lines of evidence have proposed a connection between etiopathogenesis of SCZ and human brain evolution, which was chara...

journal_title：Human genetics

authors： Gonçalves VF,Andreazza AC,Kennedy JL

更新日期：2015-01-01 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：:We have analyzed the allele frequency distribution at the highly polymorphic variable number of tandem repeat (VNTR) locus D1S80 (pMCT118) in seven ethnic populations (namely, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, American and Western Samoans, Kacharis of Nor...

journal_title：Human genetics

authors： Deka R,DeCroo S,Jin L,McGarvey ST,Rothhammer F,Ferrell RE,Chakraborty R

更新日期：1994-09-01 00:00:00

abstract：:The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...

journal_title：Human genetics

authors： Thomas NS,Maloney V,Bryant V,Huang S,Brewer C,Lachlan K,Jacobs PA

更新日期：2009-03-01 00:00:00

abstract：:Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...

journal_title：Human genetics

authors： Drew AP,Cutrupi AN,Brewer MH,Nicholson GA,Kennerson ML

更新日期：2016-11-01 00:00:00