Alpha-globin gene cluster haplotypes in the Kalahari San and southern African Bantu-speaking blacks.

abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

journal_title：American journal of human genetics

authors： Hassold T,Benham F,Leppert M

更新日期：1988-04-01 00:00:00

abstract：:We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to...

journal_title：American journal of human genetics

authors： Figus A,Angius A,Loudianos G,Bertini C,Dessi V,Loi A,Deiana M,Lovicu M,Olla N,Sole G

更新日期：1995-12-01 00:00:00

abstract：:Obesity is an increasingly serious health problem in the world. Body mass index (BMI), percentage fat mass, and body fat mass are important indices of obesity. For a sample of pedigrees that contains >10,000 relative pairs (including 1,249 sib pairs) that are useful for linkage analyses, we performed a whole-genome li...

journal_title：American journal of human genetics

authors： Deng HW,Deng H,Liu YJ,Liu YZ,Xu FH,Shen H,Conway T,Li JL,Huang QY,Davies KM,Recker RR

更新日期：2002-05-01 00:00:00

abstract：:About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...

journal_title：American journal of human genetics

authors： Passarino G,Semino O,Bernini LF,Santachiara-Benerecetti AS

更新日期：1996-10-01 00:00:00

abstract：:The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here, we report on two families with recessive mutations in NCAPG2 and ov...

journal_title：American journal of human genetics

authors： Khan TN,Khan K,Sadeghpour A,Reynolds H,Perilla Y,McDonald MT,Gallentine WB,Baig SM,Task Force for Neonatal Genomics.,Davis EE,Katsanis N

更新日期：2019-01-03 00:00:00

abstract：:The common 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism causes decreased activity of this enzyme and can be associated with mild-to-moderate hyperhomocysteinemia in homozygotes, particularly when there is folic acid deficiency, as well as with vascular dementia, arterial thrombosis, venous throm...

journal_title：American journal of human genetics

authors： Rosenberg N,Murata M,Ikeda Y,Opare-Sem O,Zivelin A,Geffen E,Seligsohn U

更新日期：2002-03-01 00:00:00

abstract：:Diffuse panbronchiolitis affecting East Asians is strongly associated with the class I human leukocyte antigen (HLA) alleles. Recent observations suggest that a major disease-susceptibility gene may be located between the HLA-B and HLA-A loci in the class I region of the major histocompatibility complex on chromosome ...

journal_title：American journal of human genetics

authors： Keicho N,Ohashi J,Tamiya G,Nakata K,Taguchi Y,Azuma A,Ohishi N,Emi M,Park MH,Inoko H,Tokunaga K,Kudoh S

更新日期：2000-02-01 00:00:00

abstract：:Intracytoplasmic sperm injection (ICSI) has been used in combination with testicular sperm extraction to achieve pregnancies in couples with severe male-factor infertility, yet many of the underlying genetic mechanisms remain largely unknown. To investigate nondisjunction in mitotic and meiotic germ cells, we performe...

journal_title：American journal of human genetics

authors： Huang WJ,Lamb DJ,Kim ED,de Lara J,Lin WW,Lipshultz LI,Bischoff FZ

更新日期：1999-06-01 00:00:00

abstract：:A survey of Wilson disease in Iceland has revealed two large kindreds with affected individuals. We have carried out studies of haplotypes of dinucleotide repeat polymorphisms (CA repeats) flanking the Wilson disease gene. The same mutation, a 7-bp deletion, is present in both families, and the clinical features are s...

journal_title：American journal of human genetics

authors： Thomas GR,Jensson O,Gudmundsson G,Thorsteinsson L,Cox DW

更新日期：1995-05-01 00:00:00

abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

journal_title：American journal of human genetics

authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

更新日期：1995-08-01 00:00:00

abstract：:On the basis of accumulating evidence that obesity has a substantial genetic component, a genomewide search for linkages of DNA markers to percent body fat is ongoing in Pima Indians, a population with a very high prevalence of obesity. An initial screen of the genome (>600 markers in 874 individuals) has been complet...

journal_title：American journal of human genetics

authors： Norman RA,Thompson DB,Foroud T,Garvey WT,Bennett PH,Bogardus C,Ravussin E

更新日期：1997-01-01 00:00:00

abstract：:Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene ...

journal_title：American journal of human genetics

authors： Lahat H,Pras E,Olender T,Avidan N,Ben-Asher E,Man O,Levy-Nissenbaum E,Khoury A,Lorber A,Goldman B,Lancet D,Eldar M

更新日期：2001-12-01 00:00:00

abstract：:Low bone mineral density (BMD) is a major risk factor for osteoporotic fracture. Studies of BMD in families and twins have shown that this trait is under strong genetic control. To identify regions of the genome that contain quantitative trait loci (QTL) for BMD, we performed independent genomewide screens, using two ...

journal_title：American journal of human genetics

authors： Wilson SG,Reed PW,Bansal A,Chiano M,Lindersson M,Langdown M,Prince RL,Thompson D,Thompson E,Bailey M,Kleyn PW,Sambrook P,Shi MM,Spector TD

更新日期：2003-01-01 00:00:00

abstract：:Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. Recently, heterozygous mutations of the orphan receptor tyrosine kinase (TK) ROR2, located within a distinct segment directly after the TK domain, have been shown to be responsible f...

journal_title：American journal of human genetics

authors： Schwabe GC,Tinschert S,Buschow C,Meinecke P,Wolff G,Gillessen-Kaesbach G,Oldridge M,Wilkie AO,Kömec R,Mundlos S

更新日期：2000-10-01 00:00:00

abstract：:One of the human urinary ribonucleases (RNases) was isolated and purified to homogeneity (SDS-PAGE) by means of a series of column chromatographies. The enzyme, designated RNase 1, is a glycoprotein with a molecular weight of approximately 16,000. Rabbit antibody to the purified RNase 1 reacted with human urine and se...

journal_title：American journal of human genetics

authors： Yasuda T,Sato W,Mizuta K,Kishi K

更新日期：1988-04-01 00:00:00

abstract：:Pc 1 Duarte is a mutant brain protein present in 32% of the normal human population with 2.6% being homozygous. Preliminary studies suggest an increased frequency of this mutation in individuals with affective disease. To determine if this mutant was present in primates, 32 fetal (wild)-born baboons were examined. All...

journal_title：American journal of human genetics

authors： Comings DE,Jalanko A,Kuehl TJ

更新日期：1981-01-01 00:00:00

abstract：:Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmis...

journal_title：American journal of human genetics

authors： Müller B,Hedrich K,Kock N,Dragasevic N,Svetel M,Garrels J,Landt O,Nitschke M,Pramstaller PP,Reik W,Schwinger E,Sperner J,Ozelius L,Kostic V,Klein C

更新日期：2002-12-01 00:00:00

abstract：:Recent studies have suggested that a significant fraction of the human genome is contained in blocks of strong linkage disequilibrium, ranging from ~5 to >100 kb in length, and that within these blocks a few common haplotypes may account for >90% of the observed haplotypes. Furthermore, previous studies have suggested...

journal_title：American journal of human genetics

authors： Crawford DC,Carlson CS,Rieder MJ,Carrington DP,Yi Q,Smith JD,Eberle MA,Kruglyak L,Nickerson DA

更新日期：2004-04-01 00:00:00

abstract：:Down syndrome (DS) is the most common cause of mental retardation. Many neural phenotypes are shared between DS individuals and DS mouse models; however, the common underlying molecular pathogenetic mechanisms remain unclear. Using a transchromosomic model of DS, we show that a 30%-60% reduced expression of Nrsf/Rest ...

journal_title：American journal of human genetics

authors： Canzonetta C,Mulligan C,Deutsch S,Ruf S,O'Doherty A,Lyle R,Borel C,Lin-Marq N,Delom F,Groet J,Schnappauf F,De Vita S,Averill S,Priestley JV,Martin JE,Shipley J,Denyer G,Epstein CJ,Fillat C,Estivill X,Tybulewicz VL

更新日期：2008-09-01 00:00:00

abstract：:The numbers of progeny born to 355 patients with heritable polyposis of the colon and to 315 related, but normal, subjects, all old enough to have completed their families, are presented, as well as data on 432 subjects still young enough to have more children. Two main indices are used: mean family size ("genetic fit...

journal_title：American journal of human genetics

authors： Murphy EA,Krush AJ,Dietz M,Rohde CA

更新日期：1980-09-01 00:00:00

abstract：:Despite the fact that hundreds of genes are known to affect fertility in animal models, relatively little is known about genes that influence natural fertility in humans. To broadly survey genes contributing to variation in male fertility, we conducted a genome-wide association study (GWAS) of two fertility traits (fa...

journal_title：American journal of human genetics

authors： Kosova G,Scott NM,Niederberger C,Prins GS,Ober C

更新日期：2012-06-08 00:00:00

abstract：:Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK,Jackson L,Pergament E,Brambati B

更新日期：1988-06-01 00:00:00

abstract：:A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male ...

journal_title：American journal of human genetics

authors： Green PM,Saad S,Lewis CM,Giannelli F

更新日期：1999-12-01 00:00:00

abstract：:The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation has been investigated in a group of phase-known double heterozygotes for the FRA-X mutant and the G6PD Mediterranean variant. In these individuals, the number ...

journal_title：American journal of human genetics

authors： Rocchi M,Archidiacono N,Rinaldi A,Filippi G,Bartolucci G,Fancello GS,Siniscalco M

更新日期：1990-04-01 00:00:00

abstract：:Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of ...

journal_title：American journal of human genetics

authors： Rave-Harel N,Madgar I,Goshen R,Nissim-Rafinia M,Ziadni A,Rahat A,Chiba O,Kalman YM,Brautbar C,Levinson D

更新日期：1995-06-01 00:00:00

abstract：:The Lowe syndrome (LS), or oculocerebrorenal syndrome, has been studied using DNA-based linkage analysis, and the findings have been correlated with the result of a thorough ophthalmologic examination. It was found that the LS gene was linked to markers in the Xq24-q26 region and that the locus DXS42 was the most clos...

journal_title：American journal of human genetics

authors： Wadelius C,Fagerholm P,Pettersson U,Annerén G

更新日期：1989-02-01 00:00:00

abstract：:The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and micr...

journal_title：American journal of human genetics

authors： Abdollahi MR,Morrison E,Sirey T,Molnar Z,Hayward BE,Carr IM,Springell K,Woods CG,Ahmed M,Hattingh L,Corry P,Pilz DT,Stoodley N,Crow Y,Taylor GR,Bonthron DT,Sheridan E

更新日期：2009-11-01 00:00:00

abstract：:Neuroblastoma is a cancer of the developing sympathetic nervous system. It is diagnosed in 600-700 children per year in the United States and accounts for 12% of pediatric cancer deaths. Despite recent advances in our understanding of this malignancy's complex genetic architecture, the contribution of rare germline va...

journal_title：American journal of human genetics

authors： Egolf LE,Vaksman Z,Lopez G,Rokita JL,Modi A,Basta PV,Hakonarson H,Olshan AF,Diskin SJ

更新日期：2019-09-05 00:00:00

abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed tha...

journal_title：American journal of human genetics

authors： López-Hernández T,Ridder MC,Montolio M,Capdevila-Nortes X,Polder E,Sirisi S,Duarri A,Schulte U,Fakler B,Nunes V,Scheper GC,Martínez A,Estévez R,van der Knaap MS

更新日期：2011-04-08 00:00:00

abstract：:We report the results of biochemical and molecular investigations on a group of patients from the Saguenay-Lac-Saint-Jean region of Quebec who have an unusual form of cytochrome oxidase deficiency and Leigh disease. This group can be distinguished from the classical presentation of cytochrome oxidase deficiency with L...

journal_title：American journal of human genetics

authors： Merante F,Petrova-Benedict R,MacKay N,Mitchell G,Lambert M,Morin C,De Braekeleer M,Laframboise R,Gagné R,Robinson BH

更新日期：1993-08-01 00:00:00