Abstract:
:The sib-pair interval-mapping procedure of Fulker and Cardon is extended to take account of all available marker information on a chromosome simultaneously. The method provides a computationally fast multipoint analysis of sib-pair data, using a modified Haseman-Elston approach. It gives results very similar to those of the earlier interval-mapping procedure when marker information is relatively uniform and a coarse map is used. However, there is a substantial improvement over the original method when markers differ in information content and/or when a dense map is employed. The method is illustrated by using simulated sib-pair data.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Fulker DW,Cherny SS,Cardon LRsubject
Has Abstractpub_date
1995-05-01 00:00:00pages
1224-33issue
5eissn
0002-9297issn
1537-6605journal_volume
56pub_type
杂志文章abstract::Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotyp...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract::The genetics of African North Americans are complex amalgamations of various West and Central African peoples with modest gene flow from specific European and Amerindian peoples. A comprehensive understanding of African North American biohistory is a prerequisite for accurate interpretations of the ancestral genetics ...
journal_title:American journal of human genetics
pub_type: 评论,杂志文章
doi:10.1016/j.ajhg.2020.10.010
更新日期:2021-01-07 00:00:00
abstract::Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2012.02.009
更新日期:2012-04-06 00:00:00
abstract::Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of tumor aggressivenes...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/368230
更新日期:2003-03-01 00:00:00
abstract::Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of thre...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1988-05-01 00:00:00
abstract::There are three endogamous subdivisions of the Hutterite population, a North American religious isolate. These individuals live on communal farms, and residence is strictly patrilocal. We report on the distributions of HLA-A and B alleles and haplotypes in 203 married women from one subdivision--the Dariusleut--in Alb...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1980-03-01 00:00:00
abstract::Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1977-07-01 00:00:00
abstract::Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHM...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/320122
更新日期:2001-05-01 00:00:00
abstract::Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used s...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/323043
更新日期:2001-09-01 00:00:00
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
更新日期:2001-04-01 00:00:00
abstract::Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...
journal_title:American journal of human genetics
pub_type: 杂志文章,meta分析
doi:10.1016/j.ajhg.2016.04.013
更新日期:2016-07-07 00:00:00
abstract::Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2016.12.001
更新日期:2017-02-02 00:00:00
abstract::A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
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
更新日期:2011-09-09 00:00:00
abstract::Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to e...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2018.11.002
更新日期:2019-01-03 00:00:00
abstract::X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inacti...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302286
更新日期:1999-03-01 00:00:00
abstract::The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
abstract::Familial juvenile polyposis (FJP) is a hamartomatouspolyposis syndrome in which affected family members develop upper and lower gastrointestinal juvenile polyps and are at increased risk for gastrointestinal cancer. A genetic locus for FJP has not yet been identified by linkage; therefore, the objective of this study ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301840
更新日期:1998-05-01 00:00:00
abstract::Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in addit...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302557
更新日期:1999-09-01 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
pub_type: 杂志文章,meta分析
doi:10.1016/j.ajhg.2013.12.016
更新日期:2014-03-06 00:00:00
abstract::Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and s...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2019.02.018
更新日期:2019-04-04 00:00:00
abstract::About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1996-10-01 00:00:00
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
更新日期:2002-03-01 00:00:00
abstract::Mutations in the progressive ankylosis gene (Ank/ANKH) cause surprisingly different skeletal phenotypes in mice and humans. In mice, recessive loss-of-function mutations cause arthritis, ectopic crystal formation, and joint fusion throughout the body. In humans, some dominant mutations cause chondrocalcinosis, an adul...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/509881
更新日期:2006-12-01 00:00:00
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
更新日期:2009-11-01 00:00:00
abstract::Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In the present study we have used the combined techniques of genetic linkage analysis and ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-05-01 00:00:00
abstract::The extended Simes' test (known as GATES) and scaled chi-square test were proposed to combine a set of dependent genome-wide association signals at multiple single-nucleotide polymorphisms (SNPs) for assessing the overall significance of association at the gene or pathway levels. The two tests use different strategies...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2012.08.004
更新日期:2012-09-07 00:00:00
abstract::Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic changes in the muscle biopsy. So far, only one gene, LAMA2 (6q2), which encodes the laminin alpha2 ch...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301882
更新日期:1998-06-01 00:00:00
abstract::In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract::Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, t...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2017.01.030
更新日期:2017-03-02 00:00:00