当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > The Y-associated XY275 low allele is not restricted to indigenous African peoples.

The Y-associated XY275 low allele is not restricted to indigenous African peoples.

Abstract：

:The level of linkage disequilibrium between the XY275 MspI polymorphism and the X and Y boundaries was investigated in 21 different southern African populations. A full range of frequencies of the high allele was observed on the 1,013 X chromosomes studied, in keeping with published data. In previous studies fixation of the high allele on the Y chromosome was observed in all but two groups--a Pygmy and a Tsumkwe San population. However, in the present study of 673 Y chromosomes, the low allele was found to be associated with the Y chromosome in several different Bantu-speaking negroid groups, the Khoisan-speaking negroid Dama, the Khoisan, two groups of mixed ancestry, and the South African Asiatic-Indian population. The discovery of the low allele on Y chromosomes of caucasoid individuals suggests that more than one class of Y chromosome gave rise to the present-day non-African population. The data also fail to provide support for the theory that Africa is the site of origin of Homo sapiens, but they equally do not exclude it.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Spurdle A,Ramsay M,Jenkins T

subject

Has Abstract

pub_date

1992-06-01 00:00:00

pages

1301-7

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

50

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Innovations in human genetics education. Medical student elective in clinical genetics.

    abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bodurtha J,Spence JE,Stevens CA

    更新日期：1991-08-01 00:00:00

  • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

    abstract：:Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2, which encode the chains of type I procollagen, result in dominant forms of OI, and mutations in several other genes result in recess...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.02.009

    authors： Pyott SM,Tran TT,Leistritz DF,Pepin MG,Mendelsohn NJ,Temme RT,Fernandez BA,Elsayed SM,Elsobky E,Verma I,Nair S,Turner EH,Smith JD,Jarvik GP,Byers PH

    更新日期：2013-04-04 00:00:00

  • Error detection for genetic data, using likelihood methods.

    abstract：:As genetic maps become denser, the effect of laboratory typing errors becomes more serious. We review a general method for detecting errors in pedigree genotyping data that is a variant of the likelihood-ratio test statistic. It pinpoints individuals and loci with relatively unlikely genotypes. Power and significance ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ehm MG,Kimmel M,Cottingham RW Jr

    更新日期：1996-01-01 00:00:00

  • Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

    abstract：:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/346090

    authors： Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

    更新日期：2003-02-01 00:00:00

  • Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

    abstract：:To resolve uncertainty concerning the inheritance of the perinatal lethal form of osteogenesis imperfecta (OI type II), we collected family data and radiographs for 71 probands and analyzed the collagens synthesized by dermal fibroblastic cells cultured from 43 of the probands, 19 parental pairs, and single parents of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Byers PH,Tsipouras P,Bonadio JF,Starman BJ,Schwartz RC

    更新日期：1988-02-01 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 DHDPSL are responsible for primary hyperoxaluria type III.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.07.023

    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

  • A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.

    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

    pub_type： 杂志文章

    doi：10.1086/518312

    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

  • Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations.

    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

    pub_type： 杂志文章

    doi：10.1086/302538

    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

  • CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

    abstract：:Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively. A...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.04.004

    authors： Butcher DT,Cytrynbaum C,Turinsky AL,Siu MT,Inbar-Feigenberg M,Mendoza-Londono R,Chitayat D,Walker S,Machado J,Caluseriu O,Dupuis L,Grafodatskaya D,Reardon W,Gilbert-Dussardier B,Verloes A,Bilan F,Milunsky JM,Basran R,

    更新日期：2017-05-04 00:00:00

  • Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies.

    abstract：:Whole-genome sequencing (WGS) studies are being widely conducted in order to identify rare variants associated with human diseases and disease-related traits. Classical single-marker association analyses for rare variants have limited power, and variant-set-based analyses are commonly used by researchers for analyzing...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.03.002

    authors： Li Z,Li X,Liu Y,Shen J,Chen H,Zhou H,Morrison AC,Boerwinkle E,Lin X

    更新日期：2019-05-02 00:00:00

  • A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

    abstract：:We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females i...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339553

    authors： Klauck SM,Lindsay S,Beyer KS,Splitt M,Burn J,Poustka A

    更新日期：2002-04-01 00:00:00

  • Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

    abstract：:Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.05.001

    authors： Panagiotou ES,Sanjurjo Soriano C,Poulter JA,Lord EC,Dzulova D,Kondo H,Hiyoshi A,Chung BH,Chu YW,Lai CHY,Tafoya ME,Karjosukarso D,Collin RWJ,Topping J,Downey LM,Ali M,Inglehearn CF,Toomes C

    更新日期：2017-06-01 00:00:00

  • Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.08.003

    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

  • A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

    abstract：:Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Yet, germline mutat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/345466

    authors： Borrego S,Wright FA,Fernández RM,Williams N,López-Alonso M,Davuluri R,Antiñolo G,Eng C

    更新日期：2003-01-01 00:00:00

  • TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

    abstract：:Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomer...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.10.004

    authors： Savage SA,Giri N,Baerlocher GM,Orr N,Lansdorp PM,Alter BP

    更新日期：2008-02-01 00:00:00

  • Genetic drift in sex-linked lethal disorders.

    abstract：:A model is considered to calculate effects of genetic drift on the expected proportion of new mutants amongst males affected by a sex-linked recessive lethal. We show how to relate the number of cases of the disorder in males to the expected deviations from the deterministic value of the proportion of new mutants. For...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Slatkin M,Thomson G,Sawyer S

    更新日期：1979-03-01 00:00:00

  • Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.

    abstract：:This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-n...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/381505

    authors： Elson JL,Turnbull DM,Howell N

    更新日期：2004-02-01 00:00:00

  • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

    abstract：:The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP)...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/378817

    authors： Rainier S,Chai JH,Tokarz D,Nicholls RD,Fink JK

    更新日期：2003-10-01 00:00:00

  • Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

    abstract：:Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, SMN1. An SMN1 paralog, SMN2, differs by a C-->T transition in exon 7 that causes substantial skipping of this exon, such that SMN2 expresses only low levels of functional protein. A better u...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/498853

    authors： Cartegni L,Hastings ML,Calarco JA,de Stanchina E,Krainer AR

    更新日期：2006-01-01 00:00:00

  • Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.

    abstract：:A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. I...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.09.016

    authors： Tajima Y,Kawashima I,Tsukimura T,Sugawara K,Kuroda M,Suzuki T,Togawa T,Chiba Y,Jigami Y,Ohno K,Fukushige T,Kanekura T,Itoh K,Ohashi T,Sakuraba H

    更新日期：2009-11-01 00:00:00

  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    abstract：:Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed wi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.01.003

    authors： Chong JX,McMillin MJ,Shively KM,Beck AE,Marvin CT,Armenteros JR,Buckingham KJ,Nkinsi NT,Boyle EA,Berry MN,Bocian M,Foulds N,Uzielli ML,Haldeman-Englert C,Hennekam RC,Kaplan P,Kline AD,Mercer CL,Nowaczyk MJ,Klein Was

    更新日期：2015-03-05 00:00:00

  • A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.

    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

    pub_type： 杂志文章

    doi：

    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

  • Optimal strategies for mapping complex diseases in the presence of multiple loci.

    abstract：:Recent advances in genome technology have led to mapping and subsequent isolation, by positional cloning, of a number of genes for common and/or complex human diseases. It therefore will be possible to utilize information about a known locus in the search for additional, perhaps less penetrant, genes for a particular ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goldgar DE,Easton DF

    更新日期：1997-05-01 00:00:00

  • Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

    abstract：:Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.09.017

    authors： Mitani T,Punetha J,Akalin I,Pehlivan D,Dawidziuk M,Coban Akdemir Z,Yilmaz S,Aslan E,Hunter JV,Hijazi H,Grochowski CM,Jhangiani SN,Karaca E,Fatih JM,Iwanowski P,Gambin T,Wlasienko P,Goszczanska-Ciuchta A,Bekiesinska-Fi

    更新日期：2019-11-07 00:00:00

  • Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia.

    abstract：:The ADH1B Arg47His polymorphism has been convincingly associated with alcoholism in numerous studies of several populations in Asia and Europe. In a review of literature from the past 30 years, we have identified studies that report allele frequencies of this polymorphism for 131 population samples from many different...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/521201

    authors： Li H,Mukherjee N,Soundararajan U,Tarnok Z,Barta C,Khaliq S,Mohyuddin A,Kajuna SL,Mehdi SQ,Kidd JR,Kidd KK

    更新日期：2007-10-01 00:00:00

  • Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

    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

    pub_type： 杂志文章

    doi：10.1086/302096

    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

  • Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).

    abstract：:The structural gene for the human lysosomal enzyme aspartylglucosaminidase (AGA) has been assigned to chromosome 4 using somatic cell hybridization techniques. The human monomeric enzyme was detected in Chinese hamster-human cell hybrids by a thermal denaturation assay that selectively inactivated the Chinese hamster ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Aula P,Astrin KH,Francke U,Desnick RJ

    更新日期：1984-11-01 00:00:00

  • Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection.

    abstract：:Helicobacter pylori is considered the most prevalent infectious agent among humans, and it causes gastric inflammation, gastroduodenal ulcers, and a risk of gastric cancer. We performed a genomewide linkage analysis among Senegalese siblings phenotyped for H. pylori-reactive serum immunoglobulin G. A multipoint LOD sc...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/367714

    authors： Thye T,Burchard GD,Nilius M,Müller-Myhsok B,Horstmann RD

    更新日期：2003-02-01 00:00:00

  • Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci.

    abstract：:Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonpa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/319509

    authors： Laval SH,Timms A,Edwards S,Bradbury L,Brophy S,Milicic A,Rubin L,Siminovitch KA,Weeks DE,Calin A,Wordsworth BP,Brown MA

    更新日期：2001-04-01 00:00:00