A DNA polymorphism in close physical linkage with the proopiomelanocortin gene.

abstract：:Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of tumor aggressivenes...

journal_title：American journal of human genetics

authors： Slager SL,Schaid DJ,Cunningham JM,McDonnell SK,Marks AF,Peterson BJ,Hebbring SJ,Anderson S,French AJ,Thibodeau SN

更新日期：2003-03-01 00:00:00

abstract：:Significantly larger variation between sibships within families of male MZ twins than between sibships within families of female MZ twins, indicative of maternal influences, was found for 10 of 41 dermatoglyphic fingertip variables. Of these, five were thumb-related with the effect primarily on the thumb radial and ri...

journal_title：American journal of human genetics

authors： Reed T,Evans MM,Norton JA Jr,Christian JC

更新日期：1979-05-01 00:00:00

abstract：:Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region...

journal_title：American journal of human genetics

authors： Marazita ML,Murray JC,Lidral AC,Arcos-Burgos M,Cooper ME,Goldstein T,Maher BS,Daack-Hirsch S,Schultz R,Mansilla MA,Field LL,Liu YE,Prescott N,Malcolm S,Winter R,Ray A,Moreno L,Valencia C,Neiswanger K,Wyszynski DF,

更新日期：2004-08-01 00:00:00

abstract：:Disordered mitochondrial metabolism may play an important role in a number of idiopathic neurodegenerative disorders. The question of mitochondrial dysfunction is particularly attractive in the case of idiopathic Parkinson disease (PD), since Vyas et al. recognized in the 1980s that the parkinsonism-inducing compound ...

journal_title：American journal of human genetics

authors： Parker WD Jr,Swerdlow RH

更新日期：1998-04-01 00:00:00

abstract：:Personalized genetic information is not widely utilized as a resource in learning environments, in part because of concerns about data privacy and the treatment of sensitive personal information. Here we describe the implementation of a curriculum centered on analyzing personalized genetic-ancestry test results during...

journal_title：American journal of human genetics

authors： Wright EA,Wagner JK,Shriver MD,Fernandez JR,Jablonski NG

更新日期：2019-02-07 00:00:00

abstract：:Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene. The mutation has been identifie...

journal_title：American journal of human genetics

authors： Dreyer B,Tranebjaerg L,Brox V,Rosenberg T,Möller C,Beneyto M,Weston MD,Kimberling WJ,Cremers CW,Liu XZ,Nilssen O

更新日期：2001-07-01 00:00:00

abstract：:Cancer occurrence in 164 families with breast/ovarian cancer and germline BRCA2 mutations was studied to evaluate the evidence for genotype-phenotype correlations. Mutations in a central portion of the gene (the "ovarian cancer cluster region" [OCCR]) were associated with a significantly higher ratio of cases of ovari...

journal_title：American journal of human genetics

authors： Thompson D,Easton D,Breast Cancer Linkage Consortium.

更新日期：2001-02-01 00:00:00

abstract：:Generalized vitiligo is a common autoimmune disorder characterized by the development of white patches of skin and overlying hair due to loss of pigment-forming melanocytes from the involved areas. Family clustering of cases is not uncommon, in a pattern suggestive of multifactorial, polygenic inheritance, and there i...

journal_title：American journal of human genetics

authors： Fain PR,Gowan K,LaBerge GS,Alkhateeb A,Stetler GL,Talbert J,Bennett DC,Spritz RA

更新日期：2003-06-01 00:00:00

abstract：:We previously reported the finding of phytosterolemia, xanthomatosis, and hyperapobetalipoproteinemia (hyperapoB) in five siblings in a large Amish pedigree ascertained through a 13-year-old boy who died suddenly from advanced coronary atherosclerosis. Here, we present further analyses of the plasma levels of the plan...

journal_title：American journal of human genetics

authors： Beaty TH,Kwiterovich PO Jr,Khoury MJ,White S,Bachorik PS,Smith HH,Teng B,Sniderman A

更新日期：1986-04-01 00:00:00

abstract：:Alcoholism is a complex disease with both genetic and environmental risk factors. To identify genes that affect the risk for alcoholism, we systematically ascertained and carefully assessed individuals in families with multiple alcoholics. Linkage and association analyses suggested that a region of chromosome 4p conta...

journal_title：American journal of human genetics

authors： Edenberg HJ,Dick DM,Xuei X,Tian H,Almasy L,Bauer LO,Crowe RR,Goate A,Hesselbrock V,Jones K,Kwon J,Li TK,Nurnberger JI Jr,O'Connor SJ,Reich T,Rice J,Schuckit MA,Porjesz B,Foroud T,Begleiter H

更新日期：2004-04-01 00:00:00

abstract：:To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simultaneously screen for n...

journal_title：American journal of human genetics

authors： Dianzani I,Forrest SM,Camaschella C,Saglio G,Ponzone A,Cotton RG

更新日期：1991-03-01 00:00:00

abstract：:Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (an...

journal_title：American journal of human genetics

authors： Veldhuisen B,Saris JJ,de Haij S,Hayashi T,Reynolds DM,Mochizuki T,Elles R,Fossdal R,Bogdanova N,van Dijk MA,Coto E,Ravine D,Nørby S,Verellen-Dumoulin C,Breuning MH,Somlo S,Peters DJ

更新日期：1997-09-01 00:00:00

abstract：:A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The ind...

journal_title：American journal of human genetics

authors： Lane AB,Young E,Jenkins T

更新日期：1980-11-01 00:00:00

abstract：:We consider sequential sampling of pedigrees for genetic analysis. Cannings and Thompson (1977) gave simple, general guidelines for valid sequential sampling schemes. We show that their formulation of the likelihood contains an error, which is, however, easily corrected so as to maintain the validity of the sequential...

journal_title：American journal of human genetics

authors： Hodge SE,Boehnke M

更新日期：1986-08-01 00:00:00

abstract：:An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that the expansion might have...

journal_title：American journal of human genetics

authors： Xi Z,van Blitterswijk M,Zhang M,McGoldrick P,McLean JR,Yunusova Y,Knock E,Moreno D,Sato C,McKeever PM,Schneider R,Keith J,Petrescu N,Fraser P,Tartaglia MC,Baker MC,Graff-Radford NR,Boylan KB,Dickson DW,Mackenzie IR

更新日期：2015-06-04 00:00:00

abstract：:Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutati...

journal_title：American journal of human genetics

authors： Schwartz CE,May MM,Carpenter NJ,Rogers RC,Martin J,Bialer MG,Ward J,Sanabria J,Marsa S,Lewis JA,Echeverri R,Lubs HA,Voeller K,Simensen RJ,Stevenson RE

更新日期：2005-07-01 00:00:00

abstract：:A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus...

journal_title：American journal of human genetics

authors： Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

更新日期：1991-06-01 00:00:00

abstract：:The linkage of polymorphic DNA markers on chromosome 7 to cystic fibrosis (CF) was examined in two pedigrees and a number of smaller nuclear families. The pedigrees are multigenerational and together consist of more than 300 members including 30 affected individuals, while the nuclear families each have two generation...

journal_title：American journal of human genetics

authors： Watkins PC,Schwartz R,Hoffman N,Stanislovitis P,Doherty R,Klinger K

更新日期：1986-12-01 00:00:00

abstract：:The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene str...

journal_title：American journal of human genetics

authors： Gaudenz K,Roessler E,Quaderi N,Franco B,Feldman G,Gasser DL,Wittwer B,Horst J,Montini E,Opitz JM,Ballabio A,Muenke M

更新日期：1998-09-01 00:00:00

abstract：:Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozy...

journal_title：American journal of human genetics

authors： Lacombe A,Lee H,Zahed L,Choucair M,Muller JM,Nelson SF,Salameh W,Vilain E

更新日期：2006-07-01 00:00:00

abstract：:Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this...

journal_title：American journal of human genetics

authors： Fabre A,Charroux B,Martinez-Vinson C,Roquelaure B,Odul E,Sayar E,Smith H,Colomb V,Andre N,Hugot JP,Goulet O,Lacoste C,Sarles J,Royet J,Levy N,Badens C

更新日期：2012-04-06 00:00:00

abstract：:Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had micr...

journal_title：American journal of human genetics

authors： Veltman JA,Jonkers Y,Nuijten I,Janssen I,van der Vliet W,Huys E,Vermeesch J,Van Buggenhout G,Fryns JP,Admiraal R,Terhal P,Lacombe D,van Kessel AG,Smeets D,Schoenmakers EF,van Ravenswaaij-Arts CM

更新日期：2003-06-01 00:00:00

abstract：:The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both t...

journal_title：American journal of human genetics

authors： Biancalana V,Taine L,Bouix JC,Finck S,Chauvin A,De Verneuil H,Knight SJ,Stoll C,Lacombe D,Mandel JL

更新日期：1996-10-01 00:00:00

abstract：:Idiopathic scoliosis (IS) is the most common spinal deformity in children, and its etiology is unknown. To refine the search for genes underlying IS susceptibility, we ascertained a new cohort of 52 families and conducted a follow-up study of genomewide scans that produced evidence of linkage and association with 8q12...

journal_title：American journal of human genetics

authors： Gao X,Gordon D,Zhang D,Browne R,Helms C,Gillum J,Weber S,Devroy S,Swaney S,Dobbs M,Morcuende J,Sheffield V,Lovett M,Bowcock A,Herring J,Wise C

更新日期：2007-05-01 00:00:00

abstract：:Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this condition to chromosome Xq13.1-q21 in two large unrelated families. The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mu...

journal_title：American journal of human genetics

authors： Kennerson ML,Nicholson GA,Kaler SG,Kowalski B,Mercer JF,Tang J,Llanos RM,Chu S,Takata RI,Speck-Martins CE,Baets J,Almeida-Souza L,Fischer D,Timmerman V,Taylor PE,Scherer SS,Ferguson TA,Bird TD,De Jonghe P,Feely SM,

更新日期：2010-03-12 00:00:00

abstract：:A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster-human somatic cell hybrid that contained human chromosomes 13, 12, and 6p. A total of 733 phages were identified that contain human DNA inserts, and 46 single-copy subfragments have been derived and used as probe...

journal_title：American journal of human genetics

authors： Cavenee W,Leach R,Mohandas T,Pearson P,White R

更新日期：1984-01-01 00:00:00

abstract：:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the beta-oxidation of fatty acids. Approximately 80% of patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985). The remaining patients (except for a few cases worldwide) are c...

journal_title：American journal of human genetics

authors： Andresen BS,Bross P,Jensen TG,Winter V,Knudsen I,Kølvraa S,Jensen UB,Bolund L,Duran M,Kim JJ

更新日期：1993-09-01 00:00:00

abstract：:The results of an empirical nucleotide-sequencing approach indicate that the evolution of the human mitochondrial noncoding D-loop is both more rapid and more complex than is revealed by standard phylogenetic approaches. The nucleotide sequence of the D-loop region of the mitochondrial genome was determined for 45 mem...

journal_title：American journal of human genetics

authors： Howell N,Kubacka I,Mackey DA

更新日期：1996-09-01 00:00:00

abstract：:Genome-wide association studies are routinely conducted to identify genetic variants that influence complex disorders. It is well known that failure to properly account for population or pedigree structure can lead to spurious association as well as reduced power. We propose a method, ROADTRIPS, for case-control assoc...

journal_title：American journal of human genetics

authors： Thornton T,McPeek MS

更新日期：2010-02-12 00:00:00

abstract：:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rh...

journal_title：American journal of human genetics

authors： Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

更新日期：1991-01-01 00:00:00