abstract：:Uniparental disomy (UPD) is a rare condition in which a diploid offspring carries a chromosomal pair from a single parent. We now report the first two cases of UPD resulting in retinal degeneration. We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an...

journal_title：American journal of human genetics

authors： Thompson DA,McHenry CL,Li Y,Richards JE,Othman MI,Schwinger E,Vollrath D,Jacobson SG,Gal A

更新日期：2002-01-01 00:00:00

abstract：:A stepwise logistic-regression procedure is proposed for evaluation of the relative importance of variants at different sites within a small genetic region. By fitting statistical models with main effects, rather than modeling the full haplotype effects, we generate tests, with few degrees of freedom, that are likely ...

journal_title：American journal of human genetics

authors： Cordell HJ,Clayton DG

更新日期：2002-01-01 00:00:00

abstract：:A genomewide screen for quantitative-trait loci (QTLs) that underlie asthma was performed on 533 Chinese families with asthma, by the unified Haseman-Elston method. Nine asthma-related phenotypes were studied, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), airway responsiveness as indic...

journal_title：American journal of human genetics

authors： Xu X,Fang Z,Wang B,Chen C,Guang W,Jin Y,Yang J,Lewitzky S,Aelony A,Parker A,Meyer J,Weiss ST,Xu X

更新日期：2001-12-01 00:00:00

abstract：:Huntington disease (HD) is a common autosomal dominant neurodegenerative disease with early adult-onset motor abnormalities and dementia. Many studies of HD show that huntingtin (CAG)n repeat-expansion length is a sensitive and specific marker for HD. However, there are a significant number of examples of HD in the ab...

journal_title：American journal of human genetics

authors： Moore RC,Xiang F,Monaghan J,Han D,Zhang Z,Edström L,Anvret M,Prusiner SB

更新日期：2001-12-01 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：:We studied mutations in the mtDNA control region (CR) using deep-rooting French-Canadian pedigrees. In 508 maternal transmissions, we observed four substitutions (0.0079 per generation per 673 bp, 95% CI 0.0023-0.186). Combined with other familial studies, our results add up to 18 substitutions in 1,729 transmissions ...

journal_title：American journal of human genetics

authors： Heyer E,Zietkiewicz E,Rochowski A,Yotova V,Puymirat J,Labuda D

更新日期：2001-11-01 00:00:00

abstract：:Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%-6%. Although IA has a substantial genetic component, little attention has been given to the gene...

journal_title：American journal of human genetics

authors： Onda H,Kasuya H,Yoneyama T,Takakura K,Hori T,Takeda J,Nakajima T,Inoue I

更新日期：2001-10-01 00:00:00

abstract：:The importance of the HLA-DR locus to multiple sclerosis (MS) susceptibility was assessed in 542 sib pairs with MS and in their families. By genotyping 1,978 individuals for HLA-DRB1 alleles, we confirmed the well-established association of MS with HLA-DRB1*15 (HLA-DRB1*1501 and HLA-DRB5*0101), by the transmission/dis...

journal_title：American journal of human genetics

authors： Ligers A,Dyment DA,Willer CJ,Sadovnick AD,Ebers G,Risch N,Hillert J,Canadian Collaborative Study Groups.

更新日期：2001-10-01 00:00:00

abstract：:Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used s...

journal_title：American journal of human genetics

authors： Jenne DE,Tinschert S,Reimann H,Lasinger W,Thiel G,Hameister H,Kehrer-Sawatzki H

更新日期：2001-09-01 00:00:00

abstract：:ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of small blood vessels, and cancer. These clinically important manifestations have stimulated interest in defining the sequence variation in the ATM gene. Therefore, we undertook a comprehensive s...

journal_title：American journal of human genetics

authors： Thorstenson YR,Shen P,Tusher VG,Wayne TL,Davis RW,Chu G,Oefner PJ

更新日期：2001-08-01 00:00:00

abstract：:We have shown functional complementation of a genetic deficiency in human cultured cells, using artificial chromosomes derived from cloned human genomic fragments. A 404-kb human-artificial-chromosome (HAC) vector, consisting of 220 kb of alphoid DNA from the centromere of chromosome 17, human telomeres, and the hypox...

journal_title：American journal of human genetics

authors： Mejía JE,Willmott A,Levy E,Earnshaw WC,Larin Z

更新日期：2001-08-01 00:00:00

abstract：:In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study subjects is used in the actual analysis of the trait, and much of the phenotypic data is ignored. With proper consent, these...

journal_title：American journal of human genetics

authors： Perola M,Ohman M,Hiekkalinna T,Leppävuori J,Pajukanta P,Wessman M,Koskenvuo M,Palotie A,Lange K,Kaprio J,Peltonen L

更新日期：2001-07-01 00:00:00

abstract：:Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed "OPD2," is associated with a more severe, fre...

journal_title：American journal of human genetics

authors： Robertson SP,Walsh S,Oldridge M,Gunn T,Becroft D,Wilkie AO

更新日期：2001-07-01 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：:The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Rece...

journal_title：American journal of human genetics

authors： Astuti D,Latif F,Dallol A,Dahia PL,Douglas F,George E,Sköldberg F,Husebye ES,Eng C,Maher ER

更新日期：2001-07-01 00:00:00

abstract：:The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-l...

journal_title：American journal of human genetics

authors： Gedeon AK,Tiller GE,Le Merrer M,Heuertz S,Tranebjaerg L,Chitayat D,Robertson S,Glass IA,Savarirayan R,Cole WG,Rimoin DL,Kousseff BG,Ohashi H,Zabel B,Munnich A,Gecz J,Mulley JC

更新日期：2001-06-01 00:00:00

abstract：:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we ident...

journal_title：American journal of human genetics

authors： Ilkovski B,Cooper ST,Nowak K,Ryan MM,Yang N,Schnell C,Durling HJ,Roddick LG,Wilkinson I,Kornberg AJ,Collins KJ,Wallace G,Gunning P,Hardeman EC,Laing NG,North KN

更新日期：2001-06-01 00:00:00

abstract：:Although there is considerable evidence for a strong genetic component to idiopathic autism, several genomewide screens for susceptibility genes have been performed with limited concordance of linked loci, reflecting either numerous genes of weak effect and/or sample heterogeneity. Because decreasing sample heterogene...

journal_title：American journal of human genetics

authors： Buxbaum JD,Silverman JM,Smith CJ,Kilifarski M,Reichert J,Hollander E,Lawlor BA,Fitzgerald M,Greenberg DA,Davis KL

更新日期：2001-06-01 00:00:00

abstract：:Insulin resistance and hyperinsulinemia are strong correlates of obesity and type 2 diabetes, but little is known about their genetic determinants. Using data on nondiabetics from Mexican American families and a multipoint linkage approach, we scanned the genome and identified a major locus near marker D6S403 for fast...

journal_title：American journal of human genetics

authors： Duggirala R,Blangero J,Almasy L,Arya R,Dyer TD,Williams KL,Leach RJ,O'Connell P,Stern MP

更新日期：2001-05-01 00:00:00

abstract：:Renal stone formation is a common multifactorial disorder, of unknown etiology, with an established genetic contribution. Lifetime risk for nephrolithiasis is approximately 10% in Western populations, and uric acid stones account for 5%-10% of all stones, depending on climatic, dietary, and ethnic differences. We stud...

journal_title：American journal of human genetics

authors： Ombra MN,Forabosco P,Casula S,Angius A,Maestrale G,Petretto E,Casu G,Colussi G,Usai E,Melis P,Pirastu M

更新日期：2001-05-01 00:00:00

abstract：:Estimation of the components of variance for a quantitative trait allows one to evaluate both the degree to which genetics influences the trait and the trait's underlying genetic architecture. For particular traits, the estimates also may have implications for discriminating between potential models of selection and f...

journal_title：American journal of human genetics

authors： Abney M,McPeek MS,Ober C

更新日期：2001-05-01 00:00:00

abstract：:Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHM...

journal_title：American journal of human genetics

authors： McEntagart M,Norton N,Williams H,Teare MD,Dunstan M,Baker P,Houlden H,Reilly M,Wood N,Harper PS,Futreal PA,Williams N,Rahman N

更新日期：2001-05-01 00:00:00

abstract：:Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonpa...

journal_title：American journal of human genetics

authors： Laval SH,Timms A,Edwards S,Bradbury L,Brophy S,Milicic A,Rubin L,Siminovitch KA,Weeks DE,Calin A,Wordsworth BP,Brown MA

更新日期：2001-04-01 00:00:00

abstract：:Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United States. The North American Rheumatoid Arthritis Consortium, using well-defined clinical criteria, has collected 257 familie...

journal_title：American journal of human genetics

authors： Jawaheer D,Seldin MF,Amos CI,Chen WV,Shigeta R,Monteiro J,Kern M,Criswell LA,Albani S,Nelson JL,Clegg DO,Pope R,Schroeder HW Jr,Bridges SL Jr,Pisetsky DS,Ward R,Kastner DL,Wilder RL,Pincus T,Callahan LF,Flemming D

更新日期：2001-04-01 00:00:00

abstract：:A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutationa...

journal_title：American journal of human genetics

authors： Periquet M,Lücking C,Vaughan J,Bonifati V,Dürr A,De Michele G,Horstink M,Farrer M,Illarioshkin SN,Pollak P,Borg M,Brefel-Courbon C,Denefle P,Meco G,Gasser T,Breteler MM,Wood N,Agid Y,Brice A,French Parkinson's Disea

更新日期：2001-03-01 00:00:00

abstract：:We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived state) is lowest in Africa (.42) but is higher and similar in India (.55), Europe (.56), and Asia (.57). A comparison with 30 restriction-site polymorphisms (R...

journal_title：American journal of human genetics

authors： Watkins WS,Ricker CE,Bamshad MJ,Carroll ML,Nguyen SV,Batzer MA,Harpending HC,Rogers AR,Jorde LB

更新日期：2001-03-01 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：:Dopamine-beta-hydroxylase (D beta H) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-D beta H activity varies widely between individuals, and a subgroup of the population has very low activity levels. Mounting evidence suggests that the DBH s...

journal_title：American journal of human genetics

authors： Zabetian CP,Anderson GM,Buxbaum SG,Elston RC,Ichinose H,Nagatsu T,Kim KS,Kim CH,Malison RT,Gelernter J,Cubells JF

更新日期：2001-02-01 00:00:00

abstract：:We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes. ...

journal_title：American journal of human genetics

authors： Brown DT,Samuels DC,Michael EM,Turnbull DM,Chinnery PF

更新日期：2001-02-01 00:00:00

abstract：:We examined DNA polymorphisms in the nonrecombining portion of the Y-chromosome to investigate the contribution of distinct patrilineages to the present-day white Brazilian population. Twelve unique-event polymorphisms were typed in 200 unrelated males from four geographical regions of Brazil and in 93 Portuguese male...

journal_title：American journal of human genetics

authors： Carvalho-Silva DR,Santos FR,Rocha J,Pena SD

更新日期：2001-01-01 00:00:00

abstract：:Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results o...

journal_title：American journal of human genetics

authors： Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

更新日期：2001-01-01 00:00:00

abstract：:The standard paradigm postulates that the human mitochondrial genome (mtDNA) is strictly maternally inherited and that, consequently, mtDNA lineages are clonal. As a result of mtDNA clonality, phylogenetic and population genetic analyses should therefore be free of the complexities imposed by biparental recombination....

journal_title：American journal of human genetics

authors： Elson JL,Andrews RM,Chinnery PF,Lightowlers RN,Turnbull DM,Howell N

更新日期：2001-01-01 00:00:00

abstract：:The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with ...

journal_title：American journal of human genetics

authors： Dunning AM,Durocher F,Healey CS,Teare MD,McBride SE,Carlomagno F,Xu CF,Dawson E,Rhodes S,Ueda S,Lai E,Luben RN,Van Rensburg EJ,Mannermaa A,Kataja V,Rennart G,Dunham I,Purvis I,Easton D,Ponder BA

更新日期：2000-12-01 00:00:00

abstract：:Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with ...

journal_title：American journal of human genetics

authors： Jamieson CR,Fryns JP,Jacobs J,Matthijs G,Abramowicz MJ

更新日期：2000-12-01 00:00:00

abstract：:Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported...

journal_title：American journal of human genetics

authors： Klein C,Schilling K,Saunders-Pullman RJ,Garrels J,Breakefield XO,Brin MF,deLeon D,Doheny D,Fahn S,Fink JS,Forsgren L,Friedman J,Frucht S,Harris J,Holmgren G,Kis B,Kurlan R,Kyllerman M,Lang AE,Leung J,Raymond D,R

更新日期：2000-11-01 00:00:00

abstract：:The authors had previously mapped a new locus-DFNA17, for nonsyndromic hereditary hearing impairment-to chromosome 22q12.2-q13. 3. DFNA17 spans a 17- to 23-cM region, and MYH9, a nonmuscle-myosin heavy-chain gene, is located within the linked region. Because of the importance of myosins in hearing, MYH9 was tested as ...

journal_title：American journal of human genetics

authors： Lalwani AK,Goldstein JA,Kelley MJ,Luxford W,Castelein CM,Mhatre AN

更新日期：2000-11-01 00:00:00

abstract：:Stickler syndrome is a dominantly inherited disorder characterized by arthropathy, midline clefting, hearing loss, midfacial hypoplasia, myopia, and retinal detachment. These features are highly variable both between and within families. Mutations causing the disorder have been found in the COL2A1 and COL11A1 genes. P...

journal_title：American journal of human genetics

authors： Richards AJ,Baguley DM,Yates JR,Lane C,Nicol M,Harper PS,Scott JD,Snead MP

更新日期：2000-11-01 00:00:00

abstract：:Historical and genetic evidences suggest that the recently founded population of Antioquia (Colombia) is potentially useful for the genetic mapping of complex traits. This population was established in the 16th-17th centuries through the admixture of Amerinds, Europeans, and Africans and grew in relative isolation unt...

journal_title：American journal of human genetics

authors： Carvajal-Carmona LG,Soto ID,Pineda N,Ortíz-Barrientos D,Duque C,Ospina-Duque J,McCarthy M,Montoya P,Alvarez VM,Bedoya G,Ruiz-Linares A

更新日期：2000-11-01 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：:X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with "X-linked dominant cone-rod degeneration." After clinical...

journal_title：American journal of human genetics

authors： Mears AJ,Hiriyanna S,Vervoort R,Yashar B,Gieser L,Fahrner S,Daiger SP,Heckenlively JR,Sieving PA,Wright AF,Swaroop A

更新日期：2000-10-01 00:00:00