Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

abstract：:Linkage analyses were performed in 11 families with X-linked Menkes disease. In each family more than one affected patient had been diagnosed. Forty informative meioses were tested using 11 polymorphic DNA markers. From two-point linkage analyses high lod scores are seen for DXS146 (pTAK-8; maximal lod score 3.16 at r...

journal_title：American journal of human genetics

authors： Tønnesen T,Petterson A,Kruse TA,Gerdes AM,Horn N

更新日期：1992-05-01 00:00:00

abstract：:We report recessive mutations in the gene for the latent transforming growth factor-beta binding protein 4 (LTBP4) in four unrelated patients with a human syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with ...

journal_title：American journal of human genetics

authors： Urban Z,Hucthagowder V,Schürmann N,Todorovic V,Zilberberg L,Choi J,Sens C,Brown CW,Clark RD,Holland KE,Marble M,Sakai LY,Dabovic B,Rifkin DB,Davis EC

更新日期：2009-11-01 00:00:00

abstract：:Now that the cystic fibrosis (CF) gene has been identified, direct genetic testing for this disorder is available. The current lack of precision has generated a controversy concerning whether population screening is advisable. However, there is general agreement that testing for CF carriers should be offered to CF-aff...

journal_title：American journal of human genetics

authors： Fanos JH,Johnson JP

更新日期：1995-08-01 00:00:00

abstract：:An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo m...

journal_title：American journal of human genetics

authors： Gregor A,Oti M,Kouwenhoven EN,Hoyer J,Sticht H,Ekici AB,Kjaergaard S,Rauch A,Stunnenberg HG,Uebe S,Vasileiou G,Reis A,Zhou H,Zweier C

更新日期：2013-07-11 00:00:00

abstract：:To detect heterozygotes for maple-syrup-urine disease (MSUD), activities of branched-chain-alpha-ketoacid (BCKA) dehydrogenase and its components in skin fibroblasts of two obligatory heterozygotes and amnion cells of a fetus at risk were measured. Intact heterozygous cells were found to decarboxylate [1-14C] alpha-ke...

journal_title：American journal of human genetics

authors： Chuang DT,Ku LS,Kerr DS,Cox RP

更新日期：1982-05-01 00:00:00

abstract：:Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a larg...

journal_title：American journal of human genetics

authors： Israeli S,Khamaysi Z,Fuchs-Telem D,Nousbeck J,Bergman R,Sarig O,Sprecher E

更新日期：2011-04-08 00:00:00

abstract：:Germline mutations of PTEN (phosphatase and tensin homolog deleted on chromosome 10) are associated with the multihamartomatous disorder Cowden syndrome (CS). Moreover, patients with CS with germline PTEN promoter mutations have aberrant PTEN protein expression and an increased frequency of breast cancer. Here, we exa...

journal_title：American journal of human genetics

authors： Teresi RE,Zbuk KM,Pezzolesi MG,Waite KA,Eng C

更新日期：2007-10-01 00:00:00

abstract：:To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed. Expansion of the fragile X chromosome to the full mutation was seen in 13.4% of offspring from premutation mothers with 56-59 repeats, 20....

journal_title：American journal of human genetics

authors： Nolin SL,Lewis FA 3rd,Ye LL,Houck GE Jr,Glicksman AE,Limprasert P,Li SY,Zhong N,Ashley AE,Feingold E,Sherman SL,Brown WT

更新日期：1996-12-01 00:00:00

abstract：:Two reports have been published suggesting an association between the personality trait of novelty seeking and the DRD4*7R allele at the D4 dopamine-receptor locus (with heterozygotes or homozygotes for DRD4*7R having higher novelty seeking). We studied novelty seeking and four coding-sequence polymorphisms affecting ...

journal_title：American journal of human genetics

authors： Gelernter J,Kranzler H,Coccaro E,Siever L,New A,Mulgrew CL

更新日期：1997-11-01 00:00:00

abstract：:Family studies of schizophrenia have reported elevated rates of both definite and definite-plus-probable schizophrenia among the relatives of definite schizophrenics. These elevated rates imply a strong association between the two forms of diagnosis and suggest some form of familial transmission. Here we have used rec...

journal_title：American journal of human genetics

authors： McGue M,Gottesman II,Rao DC

更新日期：1983-11-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease (PMD) is an X-linked, dysmyelinating disorder of the CNS. Duplications of the proteolipid protein (PLP) gene have been found in a proportion of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause PMD. We show that the duplicati...

journal_title：American journal of human genetics

authors： Woodward K,Kendall E,Vetrie D,Malcolm S

更新日期：1998-07-01 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：:A collection of 1,069 human PCR-based genetic markers has been developed, and their distribution over the 22 autosomes and the X chromosome has been determined. Each marker was developed around a short-tandem-repeat DNA sequence. The majority (85%) of the markers described here were selected to contain tetranucleotide...

journal_title：American journal of human genetics

authors：

更新日期：1995-09-01 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：:Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a marked decrease in systolic blood pressure, an increase in diastolic pressure, and tachycardia, all of which resolve when s...

journal_title：American journal of human genetics

authors： DeStefano AL,Baldwin CT,Burzstyn M,Gavras I,Handy DE,Joost O,Martel T,Nicolaou M,Schwartz F,Streeten DH,Farrer LA,Gavras H

更新日期：1998-11-01 00:00:00

abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...

journal_title：American journal of human genetics

authors： Yoshida K,Oshima A,Shimmoto M,Fukuhara Y,Sakuraba H,Yanagisawa N,Suzuki Y

更新日期：1991-08-01 00:00:00

abstract：:The determination of gene-by-gene and gene-by-environment interactions has long been one of the greatest challenges in genetics. The traditional methods are typically inadequate because of the problem referred to as the "curse of dimensionality." Recent combinatorial approaches, such as the multifactor dimensionality ...

journal_title：American journal of human genetics

authors： Lou XY,Chen GB,Yan L,Ma JZ,Zhu J,Elston RC,Li MD

更新日期：2007-06-01 00:00:00

abstract：:Sixteen tyrosinemic patients were evaluated in our institution for a possible liver transplantation. All patients showed biochemical and/or radiological evidence of liver dysfunction. Renal involvement was found to be more abnormal than expected. Seven patients have been transplanted, with two patients receiving a com...

journal_title：American journal of human genetics

authors： Paradis K,Weber A,Seidman EG,Larochelle J,Garel L,Lenaerts C,Roy CC

更新日期：1990-08-01 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：: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：:Apolipoprotein J (apo J) is a newly identified member of a growing family of proteins associated with various lipoprotein particles. Apo J is a glycoprotein which exists in the plasma associated with high-density lipoprotein subfractions which also contain apo A-I and cholesteryl ester transfer protein (CETP). We have...

journal_title：American journal of human genetics

authors： Kamboh MI,Harmony JA,Sepehrnia B,Nwankwo M,Ferrell RE

更新日期：1991-12-01 00:00:00

abstract：:Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...

journal_title：American journal of human genetics

authors： Roberts SE,Maggouta F,Thomas NS,Jacobs PA,Crolla JA

更新日期：2003-11-01 00:00:00

abstract：:The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous rel...

journal_title：American journal of human genetics

authors： Taschner PE,de Vos N,Thompson AD,Callen DF,Doggett N,Mole SE,Dooley TP,Barth PG,Breuning MH

更新日期：1995-03-01 00:00:00

abstract：:Linkage analysis of 72 pedigrees by the maximum-likelihood method provides evidence of linkage between HLA and the hypothesized multiple sclerosis susceptibility gene (MSSG) for both the dominant and recessive models of inheritance and for penetrance values ranging from 5%--65% (or higher). This MSSG, if it exists, is...

journal_title：American journal of human genetics

authors： Tiwari JL,Hodge SE,Terasaki PI,Spence MA

更新日期：1980-01-01 00:00:00

abstract：:Shovel shape of upper incisors is a common characteristic in Asian and Native American populations but is rare or absent in African and European populations. Like other common dental traits, genetic polymorphisms involved in the tooth shoveling have not yet been clarified. In ectodysplasin A receptor (EDAR), where dys...

journal_title：American journal of human genetics

authors： Kimura R,Yamaguchi T,Takeda M,Kondo O,Toma T,Haneji K,Hanihara T,Matsukusa H,Kawamura S,Maki K,Osawa M,Ishida H,Oota H

更新日期：2009-10-01 00:00:00

abstract：:Results of autism linkage studies have been difficult to interpret across research groups, prompting the use of ever-increasing sample sizes to increase power. However, increasing sample size by pooling disparate collections for a single analysis may, in fact, not increase power in the face of genetic heterogeneity. H...

journal_title：American journal of human genetics

authors： Bartlett CW,Goedken R,Vieland VJ

更新日期：2005-04-01 00:00:00

abstract：:A family-history cancer survey was conducted on 5,486 men who underwent a radical prostatectomy, for clinically localized prostate cancer, in the Department of Urology at the Mayo Clinic during 1966-95; 4,288 men responded to the survey. Complex segregation analysis was performed to assess the genetic basis of age at ...

journal_title：American journal of human genetics

authors： Schaid DJ,McDonnell SK,Blute ML,Thibodeau SN

更新日期：1998-06-01 00:00:00

abstract：:Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In ...

journal_title：American journal of human genetics

authors： Shaffer LG,McCaskill C,Han JY,Choo KH,Cutillo DM,Donnenfeld AE,Weiss L,Van Dyke DL

更新日期：1994-11-01 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：:Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of...

journal_title：American journal of human genetics

authors： Daly SB,Urquhart JE,Hilton E,McKenzie EA,Kammerer RA,Lewis M,Kerr B,Stuart H,Donnai D,Long DA,Burgu B,Aydogdu O,Derbent M,Garcia-Minaur S,Reardon W,Gener B,Shalev S,Smith R,Woolf AS,Black GC,Newman WG

更新日期：2010-06-11 00:00:00