Replication of genetic linkage by follow-up of previously studied pedigrees.

abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...

journal_title：American journal of human genetics

authors： Funderburk SJ,Sparkes RS,Klisak I,Law ML

更新日期：1984-07-01 00:00:00

abstract：:Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one tandem run of a trinucleotide predominates. A search of human GenBank sequence revealed that the sequences of cRRY(i) are ...

journal_title：American journal of human genetics

authors： Gostout B,Liu Q,Sommer SS

更新日期：1993-06-01 00:00:00

abstract：:The National Research Council recommended the use of the ceiling principle in forensic applications of DNA testing on the grounds that the ceiling principle was believed to be "conservative," giving estimates greater than or equal to the actual genotype frequencies in the appropriate reference population. We show here...

journal_title：American journal of human genetics

authors： Slimowitz JR,Cohen JE

更新日期：1993-08-01 00:00:00

abstract：:Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero. The disease in this kin...

journal_title：American journal of human genetics

authors： Raskind WH,Wijsman E,Pagon RA,Cox TC,Bawden MJ,May BK,Bird TD

更新日期：1991-02-01 00:00:00

abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

journal_title：American journal of human genetics

authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

更新日期：2007-04-01 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：:A genetic approach is used to ascertain that a single structural locus for triosephosphate isomerase (TPI) (E.C.5.3.1.1.) is expressed in rapidly dividing human lymphoblasts. This approach is made possible through the identification of a rare electrophoretic variant of human TPI. The variant phenotype is expressed by ...

journal_title：American journal of human genetics

authors： Decker RS,Mohrenweiser HW

更新日期：1981-09-01 00:00:00

abstract：:We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white popu...

journal_title：American journal of human genetics

authors： Duffy DL,Montgomery GW,Chen W,Zhao ZZ,Le L,James MR,Hayward NK,Martin NG,Sturm RA

更新日期：2007-02-01 00:00:00

abstract：:Electrophoretic properties of eight lysosomal hydrolases and 36 nonlysosomal enzymes were investigated in cultured fibroblasts from children with the inherited storage disease mucolipidosis II (ML II); fibroblasts from a child with a related disorder, mucolipidosis III (ML III); and two obligate heterozygous cell line...

journal_title：American journal of human genetics

authors： Champion MJ,Shows TB

更新日期：1977-03-01 00:00:00

abstract：:Pedigrees used in the analysis of genetic or medical data are usually ascertained from sources subject to a variety of errors including misidentification of individuals, faults in historical documents or record linkage, nonpaternity, and unidentified adoption. Genetic markers can be used to verify putative family and ...

journal_title：American journal of human genetics

authors： Lathrop GM,Hooper AB,Huntsman JW,Ward RH

更新日期：1983-03-01 00:00:00

abstract：:Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinations placed the locus between framework ...

journal_title：American journal of human genetics

authors： Lauteala T,Sistonen P,Savontaus ML,Mykkänen J,Simell J,Lukkarinen M,Simell O,Aula P

更新日期：1997-06-01 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：:Although psoriasis is strongly associated with certain human leukocyte antigens (HLAs), evidence for linkage to HLA markers has been limited. The objectives of this study were (1) to provide more definitive evidence for linkage of psoriasis to HLA markers in multiplex families; (2) to compare the major HLA risk allele...

journal_title：American journal of human genetics

authors： Jenisch S,Henseler T,Nair RP,Guo SW,Westphal E,Stuart P,Krönke M,Voorhees JJ,Christophers E,Elder JT

更新日期：1998-07-01 00:00:00

abstract：:Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental an...

journal_title：American journal of human genetics

authors： Flex E,Niceta M,Cecchetti S,Thiffault I,Au MG,Capuano A,Piermarini E,Ivanova AA,Francis JW,Chillemi G,Chandramouli B,Carpentieri G,Haaxma CA,Ciolfi A,Pizzi S,Douglas GV,Levine K,Sferra A,Dentici ML,Pfundt RR,Le Pi

更新日期：2016-10-06 00:00:00

abstract：:Alpha-globin gene cluster haplotypes were determined in Southern African San and negroid populations. Significant differences (P less than .01) between the two groups were found at three of the nine loci in the cluster. The most striking difference, however, was the relatively low level of variation found in the San (...

journal_title：American journal of human genetics

authors： Ramsay M,Jenkins T

更新日期：1988-10-01 00:00:00

abstract：:The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient with ...

journal_title：American journal of human genetics

authors： Hagiwara Y,Nishio H,Kitoh Y,Takeshima Y,Narita N,Wada H,Yokoyama M,Nakamura H,Matsuo M

更新日期：1994-01-01 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 PCR technique was used to analyze the DXYS17 locus in the pseudoautosomal region of the X and the Y chromosomes. Analysis on an automated DNA sequencer allowed for sensitive and highly accurate typing of 16 different alleles with a size between 480 and 1,100 bp. Two DXYS17 alleles migrated with the same size on ag...

journal_title：American journal of human genetics

authors： Decorte R,Wu R,Marynen P,Cassiman JJ

更新日期：1994-03-01 00:00:00

abstract：:An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late ...

journal_title：American journal of human genetics

authors： Cohen MM,Charrow J,Balkin NE,Harris CJ

更新日期：1983-07-01 00:00:00

abstract：:We analyzed genome-wide association studies (GWASs), including data from 71,638 individuals from four ancestries, for estimated glomerular filtration rate (eGFR), a measure of kidney function used to define chronic kidney disease (CKD). We identified 20 loci attaining genome-wide-significant evidence of association (p...

journal_title：American journal of human genetics

authors： Mahajan A,Rodan AR,Le TH,Gaulton KJ,Haessler J,Stilp AM,Kamatani Y,Zhu G,Sofer T,Puri S,Schellinger JN,Chu PL,Cechova S,van Zuydam N,SUMMIT Consortium.,BioBank Japan Project.,Arnlov J,Flessner MF,Giedraitis V,Heath

更新日期：2016-09-01 00:00:00

abstract：:A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiolog...

journal_title：American journal of human genetics

authors： Ramsay M,Bernstein R,Zwane E,Page DC,Jenkins T

更新日期：1988-07-01 00:00:00

abstract：:Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in bicaudal D homolog ...

journal_title：American journal of human genetics

authors： Oates EC,Rossor AM,Hafezparast M,Gonzalez M,Speziani F,MacArthur DG,Lek M,Cottenie E,Scoto M,Foley AR,Hurles M,Houlden H,Greensmith L,Auer-Grumbach M,Pieber TR,Strom TM,Schule R,Herrmann DN,Sowden JE,Acsadi G,Mene

更新日期：2013-06-06 00:00:00

abstract：:Inhibition of replicative DNA synthesis following gamma-irradiation is observed in eukaryotic cells but is defective in cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) and in A-T-like Chinese hamster cell mutants. Chinese hamster cells show a less pronounced inhibition ...

journal_title：American journal of human genetics

authors： Verhaegh GW,Jongmans W,Jaspers NG,Natarajan AT,Oshimura M,Lohman PH,Zdzienicka MZ

更新日期：1995-11-01 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：:Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease (PH I and II, respect...

journal_title：American journal of human genetics

authors： Belostotsky R,Seboun E,Idelson GH,Milliner DS,Becker-Cohen R,Rinat C,Monico CG,Feinstein S,Ben-Shalom E,Magen D,Weissman I,Charon C,Frishberg Y

更新日期：2010-09-10 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：:New human mutations are thought to originate in germ cells, thus making a recurrence of the same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic technologies has anecdotally revealed mosaicism for mutations in somatic tissues of apparently healthy parents. Such somatically mosaic par...

journal_title：American journal of human genetics

authors： Campbell IM,Yuan B,Robberecht C,Pfundt R,Szafranski P,McEntagart ME,Nagamani SC,Erez A,Bartnik M,Wiśniowiecka-Kowalnik B,Plunkett KS,Pursley AN,Kang SH,Bi W,Lalani SR,Bacino CA,Vast M,Marks K,Patton M,Olofsson P,P

更新日期：2014-08-07 00:00:00

abstract：:We have previously reported that an X-linked recessive form of chronic idiopathic intestinal pseudo-obstruction (CIIPX) maps to Xq28. To select candidate genes for the disease, we analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. We selected and sequenced seven genes and...

journal_title：American journal of human genetics

authors： Gargiulo A,Auricchio R,Barone MV,Cotugno G,Reardon W,Milla PJ,Ballabio A,Ciccodicola A,Auricchio A

更新日期：2007-04-01 00:00:00

abstract：:Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with childhood onset...

journal_title：American journal of human genetics

authors： Chan RWY,Serpas L,Ni M,Volpi S,Hiraki LT,Tam LS,Rashidfarrokhi A,Wong PCH,Tam LHP,Wang Y,Jiang P,Cheng ASH,Peng W,Han DSC,Tse PPP,Lau PK,Lee WS,Magnasco A,Buti E,Sisirak V,AlMutairi N,Chan KCA,Chiu RWK,Reizi

更新日期：2020-11-05 00:00:00

abstract：:The affected sib-pair method has been used to investigate the mode of inheritance, and to estimate the "disease" allele frequency, for a number of HLA-associated diseases. One of the assumptions of the original sib-pair method is that the disease confers no selective disadvantage on affected individuals. This is obvio...

journal_title：American journal of human genetics

authors： Payami H,Thomson G,Louis EJ

更新日期：1984-03-01 00:00:00