Electrotypes and formal genetics of red cell glutathione peroxidase (GPX1) in the Djuka of Surinam.

abstract：:Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syn...

journal_title：American journal of human genetics

authors： Woodage T,Prasad M,Dixon JW,Selby RE,Romain DR,Columbano-Green LM,Graham D,Rogan PK,Seip JR,Smith A

更新日期：1994-07-01 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：:Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-exp...

journal_title：American journal of human genetics

authors： Fregeau B,Kim BJ,Hernández-García A,Jordan VK,Cho MT,Schnur RE,Monaghan KG,Juusola J,Rosenfeld JA,Bhoj E,Zackai EH,Sacharow S,Barañano K,Bosch DGM,de Vries BBA,Lindstrom K,Schroeder A,James P,Kulch P,Lalani SR,van

更新日期：2016-05-05 00:00:00

abstract：:Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of ge...

journal_title：American journal of human genetics

authors： Starita LM,Ahituv N,Dunham MJ,Kitzman JO,Roth FP,Seelig G,Shendure J,Fowler DM

更新日期：2017-09-07 00:00:00

abstract：:Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, ...

journal_title：American journal of human genetics

authors： Abouzeid H,Boisset G,Favez T,Youssef M,Marzouk I,Shakankiry N,Bayoumi N,Descombes P,Agosti C,Munier FL,Schorderet DF

更新日期：2011-01-07 00:00:00

abstract：:Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein...

journal_title：American journal of human genetics

authors： Loges NT,Olbrich H,Becker-Heck A,Häffner K,Heer A,Reinhard C,Schmidts M,Kispert A,Zariwala MA,Leigh MW,Knowles MR,Zentgraf H,Seithe H,Nürnberg G,Nürnberg P,Reinhardt R,Omran H

更新日期：2009-12-01 00:00:00

abstract：:Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotype...

journal_title：American journal of human genetics

authors： Zietkiewicz E,Yotova V,Gehl D,Wambach T,Arrieta I,Batzer M,Cole DE,Hechtman P,Kaplan F,Modiano D,Moisan JP,Michalski R,Labuda D

更新日期：2003-11-01 00:00:00

abstract：:Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate. We have used an affected-only DNA-pooling strategy to carry out linkage disequilibriu...

journal_title：American journal of human genetics

authors： Suzuki K,Bustos T,Spritz RA

更新日期：1998-10-01 00:00:00

abstract：:Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i) (i.e., no single tandem repeat predominates) have received little attention. The factor IX gene has a polymorphic cryptic RY...

journal_title：American journal of human genetics

authors： Jacobson DP,Schmeling P,Sommer SS

更新日期：1993-08-01 00:00:00

abstract：:A family with three children with trisomy 21 in which the mother is a phenotypically normal, trisomy 21/normal mosaic was studied. Chromosome 21 fluorescent heteromorphisms were used to document that two of the three number 21's in two of the Down syndrome offspring were of maternal origin. Five cytogenetic surveys in...

journal_title：American journal of human genetics

authors： Harris DJ,Begleiter ML,Chamberlin J,Hankins L,Magenis RE

更新日期：1982-01-01 00:00:00

abstract：:gamma-Aminobutyric acid transaminase (GABAT, E.C.2.6.I.19) was phenotyped by starch-gel electrophoresis in post-mortem liver samples from 650 unrelated subjects of either sex, comprising 289 Chinese, 177 Indians, 140 Malays, and 44 from other racial groups from Southeast Asia. The estimated gene frequencies of GABAT1 ...

journal_title：American journal of human genetics

authors： Bhattacharyya SP,Saha N,Wee KP

更新日期：1985-03-01 00:00:00

abstract：:We defined a relative-fat-pattern index (RFPI) as the ratio of subscapular skinfold thickness to the sum of subscapular and suprailiac skinfold thicknesses and computed RFPI for 774 adults (age greater than or equal to 25 years) in 59 pedigrees ascertained through cases of cardiovascular disease. Likelihood analysis o...

journal_title：American journal of human genetics

authors： Hasstedt SJ,Ramirez ME,Kuida H,Williams RR

更新日期：1989-12-01 00:00:00

abstract：:Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent. We therefore determined sequence variation across the major relevant parts of VDR, including construction o...

journal_title：American journal of human genetics

authors： Fang Y,van Meurs JB,d'Alesio A,Jhamai M,Zhao H,Rivadeneira F,Hofman A,van Leeuwen JP,Jehan F,Pols HA,Uitterlinden AG

更新日期：2005-11-01 00:00:00

abstract：:Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenit...

journal_title：American journal of human genetics

authors： Elbaz A,Vale-Santos J,Jurkat-Rott K,Lapie P,Ophoff RA,Bady B,Links TP,Piussan C,Vila A,Monnier N

更新日期：1995-02-01 00:00:00

abstract：:Huntington disease (HD) is a dominantly inherited neurodegenerative disorder characterized by dysregulation of various genes. Recently, microRNAs (miRNAs) have been reported to be involved in this dysregulation, suggesting that manipulation of appropriate miRNA regulation may have a therapeutic benefit. Here, we repor...

journal_title：American journal of human genetics

authors： Cheng PH,Li CL,Chang YF,Tsai SJ,Lai YY,Chan AW,Chen CM,Yang SH

更新日期：2013-08-08 00:00:00

abstract：:Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE reviews, we assessed the scientific evidence supporting the purported gene-disease associations for genes included in g...

journal_title：American journal of human genetics

authors： Janssens AC,Gwinn M,Bradley LA,Oostra BA,van Duijn CM,Khoury MJ

更新日期：2008-03-01 00:00:00

abstract：:Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appe...

journal_title：American journal of human genetics

authors： Twigg SR,Matsumoto K,Kidd AM,Goriely A,Taylor IB,Fisher RB,Hoogeboom AJ,Mathijssen IM,Lourenco MT,Morton JE,Sweeney E,Wilson LC,Brunner HG,Mulliken JB,Wall SA,Wilkie AO

更新日期：2006-06-01 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：:In humans, recombination in the pseudoautosomal region is approximately 10-fold higher in males than in females. This difference is thought to reflect the fact that, in females, there is opportunity for genetic exchange along the entire length of the X chromosome, resulting in a relative reduction in the likelihood of...

journal_title：American journal of human genetics

authors： Hunt PA,LeMaire R

更新日期：1992-06-01 00:00:00

abstract：:Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-...

journal_title：American journal of human genetics

authors： Huyghe JR,Van Laer L,Hendrickx JJ,Fransen E,Demeester K,Topsakal V,Kunst S,Manninen M,Jensen M,Bonaconsa A,Mazzoli M,Baur M,Hannula S,Mäki-Torkko E,Espeso A,Van Eyken E,Flaquer A,Becker C,Stephens D,Sorri M,Orzan

更新日期：2008-09-01 00:00:00

abstract：:To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of...

journal_title：American journal of human genetics

authors： Grace ME,Berg A,He GS,Goldberg L,Horowitz M,Grabowski GA

更新日期：1991-09-01 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 poly(ADP-ribose) polymerase (PADPRP) gene (13q33-qter) depicts a two-allele (A/B) polymorphism. In the noncancer population, the frequency of the B allele is higher among blacks than among whites. Since the incidence of multiple myeloma and prostate and lung cancer is higher in the U.S. black population, we have a...

journal_title：American journal of human genetics

authors： Lyn D,Cherney BW,Lalande M,Berenson JR,Lichtenstein A,Lupold S,Bhatia KG,Smulson M

更新日期：1993-01-01 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：:The central challenges in tumor sequencing studies is to identify driver genes and pathways, investigate their functional relationships, and nominate drug targets. The efficiency of these analyses, particularly for infrequently mutated genes, is compromised when subjects carry different combinations of driver mutation...

journal_title：American journal of human genetics

authors： Hua X,Hyland PL,Huang J,Song L,Zhu B,Caporaso NE,Landi MT,Chatterjee N,Shi J

更新日期：2016-03-03 00:00:00

abstract：:Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was...

journal_title：American journal of human genetics

authors： Chan V,Fong GC,Luk KD,Yip B,Lee MK,Wong MS,Lu DD,Chan TK

更新日期：2002-08-01 00:00:00

abstract：:Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ~50,000 SNPs in up to 87,736 individuals of European ancestry and combined these in a meta-analy...

journal_title：American journal of human genetics

authors： Tragante V,Barnes MR,Ganesh SK,Lanktree MB,Guo W,Franceschini N,Smith EN,Johnson T,Holmes MV,Padmanabhan S,Karczewski KJ,Almoguera B,Barnard J,Baumert J,Chang YP,Elbers CC,Farrall M,Fischer ME,Gaunt TR,Gho JM,Gieg

更新日期：2014-03-06 00:00:00

abstract：:Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in...

journal_title：American journal of human genetics

authors： Lewis RA,Shroyer NF,Singh N,Allikmets R,Hutchinson A,Li Y,Lupski JR,Leppert M,Dean M

更新日期：1999-02-01 00:00:00

abstract：:Recently, Schork et al. found that two-trait-locus, two-marker-locus (parametric) linkage analysis can provide substantially more linkage information than can standard one-trait-locus, one-marker-locus methods. However, because of the increased burden of computation, Schork et al. do not expect that their approach wil...

journal_title：American journal of human genetics

authors： Knapp M,Seuchter SA,Baur MP

更新日期：1994-11-01 00:00:00

abstract：:Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study rep...

journal_title：American journal of human genetics

authors： Stephens TD,Shepard TH

更新日期：1983-05-01 00:00:00