abstract：:Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. How...

journal_title：American journal of human genetics

authors： Zhao H,Li J,Robinson WP

更新日期：2000-10-01 00:00:00

abstract：:Both the optimal marker density for genome scans in case-control association studies and the appropriate study design for the testing of candidate genes depend on the genomic pattern of linkage disequilibrium (LD). In this study, we provide the first conclusive demonstration that the diverse demographic histories of h...

journal_title：American journal of human genetics

authors： Wilson JF,Goldstein DB

更新日期：2000-10-01 00:00:00

abstract：:Down syndrome is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors...

journal_title：American journal of human genetics

authors： Hobbs CA,Sherman SL,Yi P,Hopkins SE,Torfs CP,Hine RJ,Pogribna M,Rozen R,James SJ

更新日期：2000-09-01 00:00:00

abstract：:Palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11 at the constitutional t(11;22) breakpoint are predicted to induce genomic instability, which mediates the translocation. A PCR-based translocation-detection system for the t(11;22) has been developed with PCR primers flanking the PATRRs of both chromo...

journal_title：American journal of human genetics

authors： Kurahashi H,Shaikh TH,Zackai EH,Celle L,Driscoll DA,Budarf ML,Emanuel BS

更新日期：2000-09-01 00:00:00

abstract：:We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regiona...

journal_title：American journal of human genetics

authors： Alves-Silva J,da Silva Santos M,Guimarães PE,Ferreira AC,Bandelt HJ,Pena SD,Prado VF

更新日期：2000-08-01 00:00:00

abstract：:Loss-of-heterozygosity (LOH) studies have implicated one or more chromosome 11 tumor-suppressor gene(s) in the development of cutaneous melanoma as well as a variety of other forms of human cancer. In the present study, we have identified multiple independent critical regions on this chromosome by use of homozygosity ...

journal_title：American journal of human genetics

authors： Goldberg EK,Glendening JM,Karanjawala Z,Sridhar A,Walker GJ,Hayward NK,Rice AJ,Kurera D,Tebha Y,Fountain JW

更新日期：2000-08-01 00:00:00

abstract：:Monosomy for the X chromosome in humans creates a genetic Achilles' heel for nature to deal with. We report that the human X chromosome appears to have one-third the density of the coding sequence of the autosomes and, because of partial shielding from the high mutation rate of the male sex, that it should also have a...

journal_title：American journal of human genetics

authors： Giannelli F,Green PM

更新日期：2000-08-01 00:00:00

abstract：:We have previously shown that intracellular trafficking and extracellular assembly of tropoelastin into elastic fibers is facilitated by the 67-kD elastin-binding protein identical to an enzymatically inactive, alternatively spliced variant of beta-galactosidase (S-Gal). In the present study, we investigated elastic-f...

journal_title：American journal of human genetics

authors： Hinek A,Zhang S,Smith AC,Callahan JW

更新日期：2000-07-01 00:00:00

abstract：:Recent studies suggest that hereditary prostate cancer is a complex disease involving multiple susceptibility genes and variable phenotypic expression. While conducting a genomewide search on 162 North American families with > or =3 members affected with prostate cancer (PRCA), we found evidence for linkage to chromos...

journal_title：American journal of human genetics

authors： Berry R,Schroeder JJ,French AJ,McDonnell SK,Peterson BJ,Cunningham JM,Thibodeau SN,Schaid DJ

更新日期：2000-07-01 00:00:00

abstract：:Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...

journal_title：American journal of human genetics

authors： Martin ER,Monks SA,Warren LL,Kaplan NL

更新日期：2000-07-01 00:00:00

abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

journal_title：American journal of human genetics

authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

更新日期：2000-06-01 00:00:00

abstract：:Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut. WS4 is inherited as an autosomal recessive trait attributable to EDN3 or EDNRB mutations. It is inherited as an autosom...

journal_title：American journal of human genetics

authors： Touraine RL,Attié-Bitach T,Manceau E,Korsch E,Sarda P,Pingault V,Encha-Razavi F,Pelet A,Augé J,Nivelon-Chevallier A,Holschneider AM,Munnes M,Doerfler W,Goossens M,Munnich A,Vekemans M,Lyonnet S

更新日期：2000-05-01 00:00:00

abstract：:When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we intro...

journal_title：American journal of human genetics

authors： Sham PC,Lin MW,Zhao JH,Curtis D

更新日期：2000-05-01 00:00:00

abstract：:The mtDNA variation of 74 Khoisan-speaking individuals (Kung and Khwe) from Schmidtsdrift, in the Northern Cape Province of South Africa, was examined by high-resolution RFLP analysis and control region (CR) sequencing. The resulting data were combined with published RFLP haplotype and CR sequence data from sub-Sahara...

journal_title：American journal of human genetics

authors： Chen YS,Olckers A,Schurr TG,Kogelnik AM,Huoponen K,Wallace DC

更新日期：2000-04-01 00:00:00

abstract：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

journal_title：American journal of human genetics

authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

更新日期：2000-04-01 00:00:00

abstract：:Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which insulin-like growth factor 2 (IGF2) is the most likely candidate, is ...

journal_title：American journal of human genetics

authors： Sperandeo MP,Ungaro P,Vernucci M,Pedone PV,Cerrato F,Perone L,Casola S,Cubellis MV,Bruni CB,Andria G,Sebastio G,Riccio A

更新日期：2000-03-01 00:00:00

abstract：:Centromeric-mapping methods have been used to investigate the association between altered recombination and meiotic nondisjunction in humans. For trisomies, current methods are based on the genotypes from a trisomic offspring and both parents. Because it is sometimes difficult to obtain samples from both parents and b...

journal_title：American journal of human genetics

authors： Feingold E,Brown AS,Sherman SL

更新日期：2000-03-01 00:00:00

abstract：:Linkage is a phenomenon that correlates the genotypes of loci, rather than the phenotypes of one locus to the genotypes of another. It is therefore necessary to convert the observed trait phenotypes into trait-locus genotypes, which can then be analyzed for coinheritance with marker-locus genotypes. However, if the mo...

journal_title：American journal of human genetics

authors： Göring HH,Terwilliger JD

更新日期：2000-03-01 00:00:00

abstract：:The gamete-competition model is an application of the Bradley-Terry model for ranking of sports teams. If allele i of a marker locus is assigned parameter taui>0, then the probability that a parent with heterozygous genotype i/j transmits allele i is Pr(i/j-->)=tau(i)/(tau(i) + tau(j). Mendelian segregation correspond...

journal_title：American journal of human genetics

authors： Sinsheimer JS,Blangero J,Lange K

更新日期：2000-03-01 00:00:00

abstract：:Fragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in ...

journal_title：American journal of human genetics

authors： Hundscheid RD,Sistermans EA,Thomas CM,Braat DD,Straatman H,Kiemeney LA,Oostra BA,Smits AP

更新日期：2000-02-01 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：:We extend the methodology for family-based tests of association and linkage to allow for both variation in the phenotypes of subjects and incorporation of covariates into general-score tests of association. We use standard association models for a phenotype and any number of predictors. We then construct a score stati...

journal_title：American journal of human genetics

authors： Lunetta KL,Faraone SV,Biederman J,Laird NM

更新日期：2000-02-01 00:00:00

abstract：:We recently reported the absence of significant linkage of phonological coding dyslexia (PCD) to chromosome 6p23-p21.3 in 79 families with at least two affected siblings, even though linkage of dyslexia to this region has been found in four other independent studies. Whereas, in our previous analyses, we used a qualit...

journal_title：American journal of human genetics

authors： Petryshen TL,Kaplan BJ,Liu MF,Field LL

更新日期：2000-02-01 00:00:00

abstract：:Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb ...

journal_title：American journal of human genetics

authors： Riva P,Corrado L,Natacci F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza L

更新日期：2000-01-01 00:00:00

abstract：:Cigarette smoke, containing reactive oxygen species, is the most important risk factor for chronic pulmonary emphysema (CPE). Heme oxygenase-1 (HO-1) plays a protective role as an antioxidant in the lung. A (GT)n dinucleotide repeat in the 5'-flanking region of human HO-1 gene shows length polymorphism and could modul...

journal_title：American journal of human genetics

authors： Yamada N,Yamaya M,Okinaga S,Nakayama K,Sekizawa K,Shibahara S,Sasaki H

更新日期：2000-01-01 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：:Joubert syndrome is a rare developmental defect of the cerebellar vermis, with autosomal recessive inheritance. The phenotype is highly variable and may include episodic hyperpnea, abnormal eye movements, hypotonia, ataxia, developmental delay, and mental retardation. Even within sibships the phenotype may vary, makin...

journal_title：American journal of human genetics

authors： Saar K,Al-Gazali L,Sztriha L,Rueschendorf F,Nur-E-Kamal M,Reis A,Bayoumi R

更新日期：1999-12-01 00:00:00

abstract：:Model-free LOD-score methods are often employed to detect linkage between marker loci and common diseases, with samples of affected sib pairs. Although extensions of the basic one-disease-locus model have been proposed that allow separate inclusion of other types of affected relative pairs, discordant relative pairs, ...

journal_title：American journal of human genetics

authors： Olson JM

更新日期：1999-12-01 00:00:00

abstract：:Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease. SSCP analyses were designed for thes...

journal_title：American journal of human genetics

authors： Greer WL,Dobson MJ,Girouard GS,Byers DM,Riddell DC,Neumann PE

更新日期：1999-11-01 00:00:00

abstract：:The mtDNA variation of 50 Spanish and 4 Cuban families affected by nonsyndromic sensorineural deafness due to the A1555G mutation in the 12S rRNA gene was studied by high-resolution RFLP analysis and sequencing of the control region. Phylogenetic analyses of haplotypes and detailed survey of population controls reveal...

journal_title：American journal of human genetics

authors： Torroni A,Cruciani F,Rengo C,Sellitto D,López-Bigas N,Rabionet R,Govea N,López De Munain A,Sarduy M,Romero L,Villamar M,del Castillo I,Moreno F,Estivill X,Scozzari R

更新日期：1999-11-01 00:00:00

abstract：:Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the ...

journal_title：American journal of human genetics

authors：

更新日期：1999-11-01 00:00:00

abstract：:To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families containing at least two cases of epithelial ovarian cancer. Germline mutations were found in 43% of the families; BRCA1...

journal_title：American journal of human genetics

authors： Gayther SA,Russell P,Harrington P,Antoniou AC,Easton DF,Ponder BA

更新日期：1999-10-01 00:00:00

abstract：:We describe a family with a novel disorder characterized by episodic muscle weakness and X-linked inheritance. Eight males in three generations demonstrate the characteristic features of the disorder. Episodes of severe muscle weakness are typically precipitated by febrile illness and affect the facial and extraocular...

journal_title：American journal of human genetics

authors： Ryan MM,Taylor P,Donald JA,Ouvrier RA,Morgan G,Danta G,Buckley MF,North KN

更新日期：1999-10-01 00:00:00

abstract：:Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in addit...

journal_title：American journal of human genetics

authors： Radhakrishna U,Bornholdt D,Scott HS,Patel UC,Rossier C,Engel H,Bottani A,Chandal D,Blouin JL,Solanki JV,Grzeschik KH,Antonarakis SE

更新日期：1999-09-01 00:00:00

abstract：:The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as ...

journal_title：American journal of human genetics

authors： Grimbacher B,Schäffer AA,Holland SM,Davis J,Gallin JI,Malech HL,Atkinson TP,Belohradsky BH,Buckley RH,Cossu F,Español T,Garty BZ,Matamoros N,Myers LA,Nelson RP,Ochs HD,Renner ED,Wellinghausen N,Puck JM

更新日期：1999-09-01 00:00:00

abstract：:To define Y-chromosome haplotypes, we studied seven biallelic polymorphic sites. We combined data with those from four dinucleotide-repeat polymorphisms, to establish Y-chromosome compound superhaplotypes. Eight biallelic haplotypes that matched the dendrogram proposed by other investigators were identified in 762 Y c...

journal_title：American journal of human genetics

authors： Scozzari R,Cruciani F,Santolamazza P,Malaspina P,Torroni A,Sellitto D,Arredi B,Destro-Bisol G,De Stefano G,Rickards O,Martinez-Labarga C,Modiano D,Biondi G,Moral P,Olckers A,Wallace DC,Novelletto A

更新日期：1999-09-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common struct...

journal_title：American journal of human genetics

authors： Amos-Landgraf JM,Ji Y,Gottlieb W,Depinet T,Wandstrat AE,Cassidy SB,Driscoll DJ,Rogan PK,Schwartz S,Nicholls RD

更新日期：1999-08-01 00:00:00

abstract：:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by ...

journal_title：American journal of human genetics

authors： White SL,Collins VR,Wolfe R,Cleary MA,Shanske S,DiMauro S,Dahl HH,Thorburn DR

更新日期：1999-08-01 00:00:00

abstract：:Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessar...

journal_title：American journal of human genetics

authors： Cazeneuve C,Sarkisian T,Pêcheux C,Dervichian M,Nédelec B,Reinert P,Ayvazyan A,Kouyoumdjian JC,Ajrapetyan H,Delpech M,Goossens M,Dodé C,Grateau G,Amselem S

更新日期：1999-07-01 00:00:00

abstract：:In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and autosomal recessive (AR...

journal_title：American journal of human genetics

authors： Turnpenny PD,Bulman MP,Frayling TM,Abu-Nasra TK,Garrett C,Hattersley AT,Ellard S

更新日期：1999-07-01 00:00:00