当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Age correlation between mates and average consanguinity in age-structured human populations.

Age correlation between mates and average consanguinity in age-structured human populations.

Abstract：

:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discrete generation models that ignore age structure. Observed frequencies of consanguineous matings are due to processes that are continuous in time and are affected by variables that are functions of age structure. The extent to which this discrepancy between the models and reality might distort conclusions drawn from comparisons of observed and expected behavior has received insufficient attention. One potential source of error is the tendency for people to choose mates whose ages differ from their own by a certain amount; this tendency influences the frequency of consanguineous matings. Age correlation between mates should therefore also affect average consanguinity between mates and average inbreeding in the population. Expected levels of consanguinity might then differ depending on whether or not age structure has been taken into account. Hajnal developed a model that predicts the frequencies of consanguineous matings in age-structured populations. Hajnal's model is extended here to include relationships that are defined by lineal descent as well as by common ancestry, and to allow calculation of the frequencies of consanguineous matings in the absence of age correlation between mates. The extended model is then used to determine the effect of age correlation between mates on average consanguinity under various sets of conditions. The magnitude of this effect depends on the degree to which the increased frequency of some types of consanguineous matings is offset by the decrease in other types of matings. There is a fairly wide range of conditions under which this compensation is nearly complete and therefore under which the overall effect of age correlation is small. But the size of this effect is sensitive to many factors, especially the distribution of age differences between mates and the variances of ages at maternity and paternity. Under some conditions, age correlation between mates will have a substantial effect on average consanguinity.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Leslie PW

subject

Has Abstract

pub_date

1983-09-01 00:00:00

pages

962-77

issue

5

eissn

0002-9297

issn

1537-6605

journal_volume

35

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Linkage disequilibrium in the insulin gene region: size variation at the 5' flanking polymorphism and bimodality among "class I" alleles.

    abstract：:The 5' flanking polymorphism (5'FP), a hypervariable region at the 5' end of the insulin gene, has "class 1" alleles (650-900 bp long) that are in positive linkage disequilibrium with insulin-dependent diabetes mellitus (IDDM). We report that precise sizing of the 5'FP yields a bimodal frequency distribution of class ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McGinnis RE,Spielman RS

    更新日期：1994-09-01 00:00:00

  • Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over.

    abstract：:An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Craig-Holmes AP,Moore FB,Shaw MW

    更新日期：1975-03-01 00:00:00

  • Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

    abstract：:Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyse...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.11.008

    authors： Kichaev G,Bhatia G,Loh PR,Gazal S,Burch K,Freund MK,Schoech A,Pasaniuc B,Price AL

    更新日期：2019-01-03 00:00:00

  • Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

    abstract：:Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On anomaloscopy, one of the twins was phenotypically deuteranomalous while the other had normal color vision. The color visio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jørgensen AL,Philip J,Raskind WH,Matsushita M,Christensen B,Dreyer V,Motulsky AG

    更新日期：1992-08-01 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

  • CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.

    abstract：:Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rave-Harel N,Madgar I,Goshen R,Nissim-Rafinia M,Ziadni A,Rahat A,Chiba O,Kalman YM,Brautbar C,Levinson D

    更新日期：1995-06-01 00:00:00

  • Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

    abstract：:The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar connective-tissue de...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Das S,Levinson B,Vulpe C,Whitney S,Gitschier J,Packman S

    更新日期：1995-03-01 00:00:00

  • Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

    abstract：:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.10.003

    authors： Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

    更新日期：2018-11-01 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

  • Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

    abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/373965

    authors： Schutte M,Seal S,Barfoot R,Meijers-Heijboer H,Wasielewski M,Evans DG,Eccles D,Meijers C,Lohman F,Klijn J,van den Ouweland A,Futreal PA,Nathanson KL,Weber BL,Easton DF,Stratton MR,Rahman N,Breast Cancer Linkage Consortiu

    更新日期：2003-04-01 00:00:00

  • PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

    abstract：:Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/508572

    authors： Khateeb S,Flusser H,Ofir R,Shelef I,Narkis G,Vardi G,Shorer Z,Levy R,Galil A,Elbedour K,Birk OS

    更新日期：2006-11-01 00:00:00

  • Mutation patterns at dinucleotide microsatellite loci in humans.

    abstract：:Microsatellites are a major type of molecular markers in genetics studies. Their mutational dynamics are not clear. We investigated the patterns and characteristics of 97 mutation events unambiguously identified, from 53 multigenerational pedigrees with 630 subjects, at 362 autosomal dinucleotide microsatellite loci. ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338997

    authors： Huang QY,Xu FH,Shen H,Deng HY,Liu YJ,Liu YZ,Li JL,Recker RR,Deng HW

    更新日期：2002-03-01 00:00:00

  • Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

    abstract：:Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identifi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.02.007

    authors： Ta-Shma A,Khan TN,Vivante A,Willer JR,Matak P,Jalas C,Pode-Shakked B,Salem Y,Anikster Y,Hildebrandt F,Katsanis N,Elpeleg O,Davis EE

    更新日期：2017-04-06 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

  • Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

    abstract：:DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. Fragile X chromosome studies, detailed physical examinations, an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McConkie-Rosell A,Lachiewicz AM,Spiridigliozzi GA,Tarleton J,Schoenwald S,Phelan MC,Goonewardena P,Ding X,Brown WT

    更新日期：1993-10-01 00:00:00

  • Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

    abstract：:To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2011.12.022

    authors： Saxena R,Elbers CC,Guo Y,Peter I,Gaunt TR,Mega JL,Lanktree MB,Tare A,Castillo BA,Li YR,Johnson T,Bruinenberg M,Gilbert-Diamond D,Rajagopalan R,Voight BF,Balasubramanyam A,Barnard J,Bauer F,Baumert J,Bhangale T,Böh

    更新日期：2012-03-09 00:00:00

  • Multiplexed Functional Assessment of Genetic Variants in CARD11.

    abstract：:Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.10.015

    authors： Meitlis I,Allenspach EJ,Bauman BM,Phan IQ,Dabbah G,Schmitt EG,Camp ND,Torgerson TR,Nickerson DA,Bamshad MJ,Hagin D,Luthers CR,Stinson JR,Gray J,Lundgren I,Church JA,Butte MJ,Jordan MB,Aceves SS,Schwartz DM,Milner

    更新日期：2020-12-03 00:00:00

  • Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

    abstract：:Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish between these subtypes by...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Scott HS,Litjens T,Nelson PV,Thompson PR,Brooks DA,Hopwood JJ,Morris CP

    更新日期：1993-11-01 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

  • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

    abstract：:X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/340848

    authors： Breuer DK,Yashar BM,Filippova E,Hiriyanna S,Lyons RH,Mears AJ,Asaye B,Acar C,Vervoort R,Wright AF,Musarella MA,Wheeler P,MacDonald I,Iannaccone A,Birch D,Hoffman DR,Fishman GA,Heckenlively JR,Jacobson SG,Sieving PA

    更新日期：2002-06-01 00:00:00

  • Length heteroplasmy in the first hypervariable segment of the human mtDNA control region.

    abstract：:The first hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytosines between nt 16184 and 16193, interrupted at position 16189 by a thymine, according to the Cambridge reference sequence. A variant commonly found in population screening is a T-to-C transition at nt 16189, resul...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bendall KE,Sykes BC

    更新日期：1995-08-01 00:00:00

  • TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

    abstract：:Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.06.014

    authors： Wallmeier J,Shiratori H,Dougherty GW,Edelbusch C,Hjeij R,Loges NT,Menchen T,Olbrich H,Pennekamp P,Raidt J,Werner C,Minegishi K,Shinohara K,Asai Y,Takaoka K,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer

    更新日期：2016-08-04 00:00:00

  • Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis.

    abstract：:Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hook EB,Cross PK,Jackson L,Pergament E,Brambati B

    更新日期：1988-06-01 00:00:00

  • Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

    abstract：:Approximately 5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The breakpoints of the common 1.4-Mb (type 1) deletions are located within low-copy repeats (NF1-REPs) and cluster within a 3.4-kb hotspot of nonallelic homologous recombinatio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/522089

    authors： Steinmann K,Cooper DN,Kluwe L,Chuzhanova NA,Senger C,Serra E,Lazaro C,Gilaberte M,Wimmer K,Mautner VF,Kehrer-Sawatzki H

    更新日期：2007-12-01 00:00:00

  • A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease.

    abstract：:Prior to the implementation of predictive-testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those persons receiving an increased-risk result. We have investigated the frequency of CEs-that is, suicide, suicide attempt, a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1086/302374

    authors： Almqvist EW,Bloch M,Brinkman R,Craufurd D,Hayden MR

    更新日期：1999-05-01 00:00:00

  • Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

    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

    pub_type： 杂志文章

    doi：

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

    更新日期：1982-05-01 00:00:00

  • A multipoint linkage map of the distal short arm of the human X chromosome.

    abstract：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

    更新日期：1991-08-01 00:00:00

  • Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

    abstract：:Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholeste...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ludwig EH,McCarthy BJ

    更新日期：1990-10-01 00:00:00

  • Average heterozygosity revisited.

    abstract：:The estimate of heterozygosity and proportion of polymorphic loci for 33 red blood cell loci has been updated by the elimination of some loci of questionable status and the addition of data on 33 loci. The new figures for heterozygosity and proportion of polymorphic loci, .105 and .283, respectively, are based on 60 r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hedrick PW,Murray E

    更新日期：1978-07-01 00:00:00

  • DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

    abstract：:Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of D...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.01.005

    authors： White JJ,Mazzeu JF,Hoischen A,Bayram Y,Withers M,Gezdirici A,Kimonis V,Steehouwer M,Jhangiani SN,Muzny DM,Gibbs RA,Baylor-Hopkins Center for Mendelian Genomics.,van Bon BWM,Sutton VR,Lupski JR,Brunner HG,Carvalho CMB

    更新日期：2016-03-03 00:00:00