当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity.

Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity.

Abstract：

:The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and the latter in TaqI-digested DNA. Approximately 700 DNA samples from unrelated individuals were digested with each of these enzymes and hybridized with the appropriate recombinant DNA probes. The size range of the DNA fragments detected for the D14S1 polymorphism varied from 14.3 to 32.5 kilobase pairs (kbp). The number of alleles identified under the experimental conditions used in this study was more than 40. For the HRAS-1 polymorphism, we have detected 18 different alleles varying in size from 1.85 to 4.5 kbp. Although the number of alleles observed in the different ethnic groups examined was very similar, the relative frequency of them varied significantly. The results presented here can be used as the basis for the utilization of DNA RFLP for the purpose of identity, such as paternity determinations or the analysis of forensic material. As an example, we have compared the results of paternity cases analyzed by HLA typing with those obtained with these two DNA polymorphisms. The values of paternity index and power of exclusion were similar by both procedures.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Baird M,Balazs I,Giusti A,Miyazaki L,Nicholas L,Wexler K,Kanter E,Glassberg J,Allen F,Rubinstein P

subject

Has Abstract,Author List Incomplete

pub_date

1986-10-01 00:00:00

pages

489-501

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

39

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis.

    abstract：:Most sporadic cases of retinoblastoma, malignant eye tumor of children, may require the identification of a mutation of the retinoblastoma gene (RB1 gene) for precise genetic counseling. We established a mutation detection system of and screened for the RB1 gene mutation in 24 patients with retinoblastoma--12 bilatera...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shimizu T,Toguchida J,Kato MV,Kaneko A,Ishizaki K,Sasaki MS

    更新日期：1994-05-01 00:00:00

  • The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

    abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mut...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Edwards SJ,Gladwin AJ,Dixon MJ

    更新日期：1997-03-01 00:00:00

  • Cytogenetic and molecular analysis of sex-chromosome monosomy.

    abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hassold T,Benham F,Leppert M

    更新日期：1988-04-01 00:00:00

  • GDF5 is a second locus for multiple-synostosis syndrome.

    abstract：:Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six proband...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/503204

    authors： Dawson K,Seeman P,Sebald E,King L,Edwards M,Williams J 3rd,Mundlos S,Krakow D

    更新日期：2006-04-01 00:00:00

  • Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.

    abstract：:Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidos...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：

    authors： Jacobson DR,Reveille JD,Buxbaum JN

    更新日期：1991-07-01 00:00:00

  • Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

    abstract：:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Sobel E,Lange K

    更新日期：1996-06-01 00:00:00

  • Isolated persistent hypermethioninemia.

    abstract：:New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase (MAT; E.C.2.5.1.6) in liver were not performed on most of these pati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Mudd SH,Levy HL,Tangerman A,Boujet C,Buist N,Davidson-Mundt A,Hudgins L,Oyanagi K,Nagao M,Wilson WG

    更新日期：1995-10-01 00:00:00

  • Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

    abstract：:N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.03.004

    authors： Cheng H,Dharmadhikari AV,Varland S,Ma N,Domingo D,Kleyner R,Rope AF,Yoon M,Stray-Pedersen A,Posey JE,Crews SR,Eldomery MK,Akdemir ZC,Lewis AM,Sutton VR,Rosenfeld JA,Conboy E,Agre K,Xia F,Walkiewicz M,Longoni M,H

    更新日期：2018-05-03 00:00:00

  • The phylogeography of Brazilian Y-chromosome lineages.

    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

    pub_type： 杂志文章

    doi：10.1086/316931

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

    更新日期：2001-01-01 00:00:00

  • Cystic fibrosis carrier population screening in the primary care setting.

    abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

    journal_title：American journal of human genetics

    pub_type： 临床试验,杂志文章

    doi：

    authors： Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

    更新日期：1996-07-01 00:00:00

  • A major locus for fasting insulin concentrations and insulin resistance on chromosome 6q with strong pleiotropic effects on obesity-related phenotypes in nondiabetic Mexican Americans.

    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

    pub_type： 杂志文章

    doi：10.1086/320100

    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

  • Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

    abstract：:We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.04.002

    authors： Vissers LE,Lausch E,Unger S,Campos-Xavier AB,Gilissen C,Rossi A,Del Rosario M,Venselaar H,Knoll U,Nampoothiri S,Nair M,Spranger J,Brunner HG,Bonafé L,Veltman JA,Zabel B,Superti-Furga A

    更新日期：2011-05-13 00:00:00

  • Multipoint estimation of genetic maps for human trisomies with one parent or other partial data.

    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

    pub_type： 杂志文章

    doi：10.1086/302799

    authors： Feingold E,Brown AS,Sherman SL

    更新日期：2000-03-01 00:00:00

  • Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples: 17q25 is a putative susceptibility region.

    abstract：:Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and phonic tics and high comorbidity rates with other neurobehavioral disorders. It is hypothesized that frontal-subcortical pathways and a complex genetic background are involved in the etiopathogenesis of the disorder. The genetic basis of GTS r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/424389

    authors： Paschou P,Feng Y,Pakstis AJ,Speed WC,DeMille MM,Kidd JR,Jaghori B,Kurlan R,Pauls DL,Sandor P,Barr CL,Kidd KK

    更新日期：2004-10-01 00:00:00

  • Isolation and mapping of 68 RFLP markers on human chromosome 6.

    abstract：:We have isolated 68 new RFLP markers on human chromosome 6. Of these, 64 were localized on chromosomal bands by the fluorescent in-situ hybridization (FISH) method, 25 on the short arm and 39 on the long arm. Their distribution was uneven; the markers were localized predominantly in regions of R-positive banding. Elev...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Saito S,Okui K,Tokino T,Oshimura M,Nakamura Y

    更新日期：1992-01-01 00:00:00

  • High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

    abstract：:Autosomal-recessive high-grade axial myopia was diagnosed in Bedouin Israeli consanguineous kindred. Some affected individuals also had variable expressivity of early-onset cataracts, peripheral vitreo-retinal degeneration, and secondary sight loss due to severe retinal detachments. Through genome-wide linkage analysi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.08.003

    authors： Mordechai S,Gradstein L,Pasanen A,Ofir R,El Amour K,Levy J,Belfair N,Lifshitz T,Joshua S,Narkis G,Elbedour K,Myllyharju J,Birk OS

    更新日期：2011-09-09 00:00:00

  • Familial transmission of the FMR1 CGG repeat.

    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

    pub_type： 杂志文章

    doi：

    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

  • A general conditional-logistic model for affected-relative-pair linkage studies.

    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

    pub_type： 杂志文章

    doi：10.1086/302662

    authors： Olson JM

    更新日期：1999-12-01 00:00:00

  • A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

    abstract：:Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, present...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339766

    authors： Raas-Rothschild A,Wanders RJ,Mooijer PA,Gootjes J,Waterham HR,Gutman A,Suzuki Y,Shimozawa N,Kondo N,Eshel G,Espeel M,Roels F,Korman SH

    更新日期：2002-04-01 00:00:00

  • A statistical method for identification of polymorphisms that explain a linkage result.

    abstract：:Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338660

    authors： Sun L,Cox NJ,McPeek MS

    更新日期：2002-02-01 00:00:00

  • A collection of ordered tetranucleotide-repeat markers from the human genome. The Utah Marker Development Group.

    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

    pub_type： 杂志文章

    doi：

    authors：

    更新日期：1995-09-01 00:00:00

  • The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.

    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

    pub_type： 杂志文章

    doi：10.1086/302642

    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

  • Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

    abstract：:Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozy...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/505406

    authors： Lacombe A,Lee H,Zahed L,Choucair M,Muller JM,Nelson SF,Salameh W,Vilain E

    更新日期：2006-07-01 00:00:00

  • Power comparison of parametric and nonparametric linkage tests in small pedigrees.

    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

    pub_type： 杂志文章

    doi：10.1086/302888

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

    更新日期：2000-05-01 00:00:00

  • A genetical model for vitiligo.

    abstract：:A genetical model is found to provide a good fit to family data on vitiligo. The model postulates that recessive alleles at a set of four unlinked diallelic loci are involved in the causation of the disorder. Under this multiple recessive homozygosis model, for normal X affected families ascertained through the affect...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Majumder PP,Das SK,Li CC

    更新日期：1988-08-01 00:00:00

  • A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

    abstract：:Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome. Genetic-linkage analysis has implicated the fibrillin-2 gene (FBN2) as the CCA locus. Mutation analysis of two isolated CCA patients revealed missense mutation...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/515472

    authors： Maslen C,Babcock D,Raghunath M,Steinmann B

    更新日期：1997-06-01 00:00:00

  • Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

    abstract：:Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.09.010

    authors： Di Donato N,Jean YY,Maga AM,Krewson BD,Shupp AB,Avrutsky MI,Roy A,Collins S,Olds C,Willert RA,Czaja AM,Johnson R,Stover JA,Gottlieb S,Bartholdi D,Rauch A,Goldstein A,Boyd-Kyle V,Aldinger KA,Mirzaa GM,Nissen A,Br

    更新日期：2016-11-03 00:00:00

  • Mapping of Alport syndrome to the long arm of the X chromosome.

    abstract：:Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis). Lod scores greater than 3.0 for linkage between the disease locus and two of the markers confirmed X-linked inheritance of the disease. A decreasing gradient in the estimated recombinat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Atkin CL,Hasstedt SJ,Menlove L,Cannon L,Kirschner N,Schwartz C,Nguyen K,Skolnick M

    更新日期：1988-02-01 00:00:00

  • Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

    abstract：:The extent to which variants in the protein-coding sequence of genes contribute to risk of rheumatoid arthritis (RA) is unknown. In this study, we addressed this issue by deep exon sequencing and large-scale genotyping of 25 biological candidate genes located within RA risk loci discovered by genome-wide association s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.11.012

    authors： Diogo D,Kurreeman F,Stahl EA,Liao KP,Gupta N,Greenberg JD,Rivas MA,Hickey B,Flannick J,Thomson B,Guiducci C,Ripke S,Adzhubey I,Barton A,Kremer JM,Alfredsson L,Consortium of Rheumatology Researchers of North America.,Rhe

    更新日期：2013-01-10 00:00:00

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

    abstract：:Samples of venous blood from 239 male and 476 female adults including 41 pairs of parents and 123 of their children belonging to a Surinam population called the Djuka or Bush Negroes of West African origin were screened for electrophoretic variants of red cell glutathione peroxidase (GPX1) in Cellogel. The results con...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Meera Khan P,Verma C,Wijnen LM,Wijnen JT,Prins HK,Nijenhuis LE

    更新日期：1986-05-01 00:00:00