Markers informative for ancestry demonstrate consistent megabase-length linkage disequilibrium in the African American population.

abstract：:Genetic factors play important roles in the development of tuberculosis (TB). SP110 is a promising candidate target for controlling TB infections. However, several studies associating SP110 single nucleotide polymorphisms (SNPs) with TB have yielded conflicting results. This may be partly resolved by studying other ge...

journal_title：Human genetics

authors： Cai L,Deng SL,Liang L,Pan H,Zhou J,Wang MY,Yue J,Wan CL,He G,He L

更新日期：2013-03-01 00:00:00

abstract：:We have recently demonstrated tight linkage of the Duffy blood group marker to the alpha-spectrin gene in an extended pedigree with Charcot-Marie-Tooth neuropathy. To determine a more precise location of the Duffy blood group locus on the chromosome 1 map we have tested several more chromosome 1 genes for linkage with...

journal_title：Human genetics

authors： Raeymaekers P,Van Broeckhoven C,Backhovens H,Wehnert A,Muylle L,De Jonghe P,Gheuens J,Martin JJ,Vandenberghe A

更新日期：1989-02-01 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：:We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...

journal_title：Human genetics

authors： Yurov YB,Soloviev IV,Vorsanova SG,Marcais B,Roizes G,Lewis R

更新日期：1996-03-01 00:00:00

abstract：:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and...

journal_title：Human genetics

authors： Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

更新日期：1988-01-01 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：:Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...

journal_title：Human genetics

authors： Ray M,Pearson J

更新日期：1979-04-27 00:00:00

abstract：:Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mappi...

journal_title：Human genetics

authors： Babbs C,Heller R,Everman DB,Crocker M,Twigg SR,Schwartz CE,Giele H,Wilkie AO

更新日期：2007-09-01 00:00:00

abstract：:Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution map...

journal_title：Human genetics

authors： Tapia-Páez I,O'Brien KP,Kost-Alimova M,Sahlén S,Kedra D,Bruder CE,Andersson B,Roe BA,Hu P,Imreh S,Blennow E,Dumanski JP

更新日期：2000-05-01 00:00:00

abstract：:By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...

journal_title：Human genetics

authors： Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GN

更新日期：1991-09-01 00:00:00

abstract：:We identified eight candidate thinness predisposition variants from the Illumina HumanExome chip genotyped on members of pedigrees selected for either healthy thinness or severe obesity. For validation, we tested the candidates for association with healthy thinness in additional pedigree members while accounting for e...

journal_title：Human genetics

authors： Hasstedt SJ,Coon H,Xin Y,Adams TD,Hunt SC

更新日期：2016-02-01 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

abstract：:The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...

journal_title：Human genetics

authors： Sofuni T,Tanabe K,Awa AA

更新日期：1980-01-01 00:00:00

abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

journal_title：Human genetics

authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

更新日期：1992-05-01 00:00:00

abstract：:Neurofibromas, benign tumors that originate from the peripheral nerve sheath, are a hallmark of neurofibromatosis type 1 (NF1). Although loss of heterozygosity (LOH) is a common phenomenon in this neoplasia, it only accounts for part of the somatic NF1 mutations found. Somatic point mutations or the presence of "two h...

journal_title：Human genetics

authors： Serra E,Ars E,Ravella A,Sánchez A,Puig S,Rosenbaum T,Estivill X,Lázaro C

更新日期：2001-05-01 00:00:00

abstract：:Genetic isolates provide unprecedented opportunities to identify pathogenic mutations and explore the full natural history of clinically heterogeneous phenotypes such as hearing loss. We noticed a unique audioprofile, characterized by prelingual and rapid deterioration of hearing thresholds at frequencies >0.5 kHz in ...

journal_title：Human genetics

authors： Pater JA,Benteau T,Griffin A,Penney C,Stanton SG,Predham S,Kielley B,Squires J,Zhou J,Li Q,Abdelfatah N,O'Rielly DD,Young TL

更新日期：2017-01-01 00:00:00

abstract：:The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...

journal_title：Human genetics

authors： Therman E,Sarto GE,Stubblefield PA

更新日期：1983-01-01 00:00:00

abstract：:Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...

journal_title：Human genetics

authors： Fang L,Ahn JK,Wodziak D,Sibley E

更新日期：2012-07-01 00:00:00

abstract：:Statistical tests for Hardy-Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal...

journal_title：Human genetics

authors： Graffelman J,Jain D,Weir B

更新日期：2017-06-01 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：:In situ hybridization experiments were carried out with two clones, YACG 35 and 2.8, which had been selected from two genomic libraries strongly enriched for the human Y chromosome. Besides the human Y chromosome, both sequences strongly hybridized to the human X chromosome, with few minor binding sites on autosomes. ...

journal_title：Human genetics

authors： Rappold GA,Cremer T,Cremer C,Back W,Bogenberger J,Cooke HJ

更新日期：1984-01-01 00:00:00

abstract：:A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...

journal_title：Human genetics

authors： Wen WN,Lieu TL,Chang HJ,Wuu SW,Yau ML,Jan KY

更新日期：1981-01-01 00:00:00

abstract：:Rearranged human chromosomes carrying segments of chromosome 11 were separated from the normal chromosome 11 by high-resolution chromosome sorting. Sorted chromosomes were tested with parathyroid hormone, beta-globin, insulin, and LDH-A gene-specific probes to determine the genes carried by each chromosome segment. Ba...

journal_title：Human genetics

authors： Lebo RV,Cheung MC,Bruce BD,Riccardi VM,Kao FT,Kan YW

更新日期：1985-01-01 00:00:00

abstract：:Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family have been reinvestigated after 17 years. Cultures for sister chromatid...

journal_title：Human genetics

authors： Romain DR,Columbano-Green LM,Smythe RH,Parfitt RG,Gebbie OB,Chapman CJ

更新日期：1986-06-01 00:00:00

abstract：:Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...

journal_title：Human genetics

authors： Reeves BR,Pickup VL

更新日期：1980-01-01 00:00:00

abstract：:An analysis of 11 I Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, B65, HS2.43, HS3.23, and HS4.65) has been performed in several NW African (Northern, Western, and Southeastern Moroccans, Saharawi; Algerians; Tunisians) and Iberian (Basques, Catalans, and Andalusians) populations. Genetic distan...

journal_title：Human genetics

authors： Comas D,Calafell F,Benchemsi N,Helal A,Lefranc G,Stoneking M,Batzer MA,Bertranpetit J,Sajantila A

更新日期：2000-10-01 00:00:00

abstract：:Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified misse...

journal_title：Human genetics

authors： Zlotogorski A,Ahmad W,Christiano AM

更新日期：1998-10-01 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：:The association between trisomy 21 and a high incidence of atrioventricular canal defects (AVCDs) indicates that a locus on chromosome 21 is involved in this congenital heart defect. We have investigated whether a genetic locus on chromosome 21 is also involved in familial nonsyndromic AVCDs. Short tandem repeat polym...

journal_title：Human genetics

authors： Cousineau AJ,Lauer RM,Pierpont ME,Burns TL,Ardinger RH,Patil SR,Sheffield VC

更新日期：1994-02-01 00:00:00

abstract：:Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control,...

journal_title：Human genetics

authors： Babaei M,Mitui M,Olson ER,Gatti RA

更新日期：2005-07-01 00:00:00