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 because the ability to use sources of DNA previously not available (e.g., stored paraffin-embedded pathological samples) has increased, we have been interested in creating similar maps for trisomic populations in which one of the parents of the trisomic individual is unavailable for genotyping. In this paper, we derive multipoint likelihoods for both missing-parent data and conventional two-parent data. We find that likelihoods for two-parent data and for data generated without a sample from the correctly disjoining parent can be maximized in exactly the same way but also that missing-parent data has a high frequency of partial data of the same sort produced by intercross matings. Previously published centromeric-mapping methods use incorrect likelihoods for intercross matings and thus can perform poorly on missing-parent data. We wrote a FORTRAN program to maximize our multipoint likelihoods and used it in simulation studies to demonstrate the biases in the previous methods.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Feingold E,Brown AS,Sherman SLdoi
10.1086/302799subject
Has Abstractpub_date
2000-03-01 00:00:00pages
958-68issue
3eissn
0002-9297issn
1537-6605pii
S0002-9297(07)64022-1journal_volume
66pub_type
杂志文章abstract：:The cellular mechanism for the expression of the fragile site at Xq28 is unknown. We tested the effect of 5-azacytidine and methionine on fragile X expression in lymphocytes and lymphoblastoid cells in an attempt to determine if DNA methylation was involved. We were unable to demonstrate a consistent dosage effect of ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
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：
更新日期：1996-12-01 00:00:00
abstract：:In studies of expression quantitative trait loci (eQTLs), it is of increasing interest to identify eGenes, the genes whose expression levels are associated with variation at a particular genetic variant. Detecting eGenes is important for follow-up analyses and prioritization because genes are the main entities in biol...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2015.04.012
更新日期：2015-06-04 00:00:00
abstract：:CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogeni...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/500273
更新日期：2006-02-01 00:00:00
abstract：:Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a...
journal_title：American journal of human genetics
pub_type： 杂志文章,评审
doi：10.1086/425285
更新日期：2004-11-01 00:00:00
abstract：:Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by mitotic recombination of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita (DC). DC is a mult...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.01.004
更新日期：2012-03-09 00:00:00
abstract：:We describe a new user-intense-learning experience that incorporates the teaching of clinical and research applications of human genetics in biochemistry while training first-year medical students to develop skills in computer access to the literature. Human genetics was incorporated into the biochemistry curriculum b...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-04-01 00:00:00
abstract：:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage an...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:We have identified a new mutation in mtDNA, involving tRNALeu(CUN) in a patient manifesting an isolated skeletal myopathy. This heteroplasmic A-->G transition at position 12320 affects the T psi C loop at a conserved site and was not found in 120 controls. Analysis of cultured fibroblasts, white blood cells/platelets,...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1997-02-01 00:00:00
abstract：:A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The ind...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1980-11-01 00:00:00
abstract：:Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus. This region includes the last five exons detected by cDNA5b-7, all exons detected by cDNA8, and the first two exons detected by cDNA9. ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-10-01 00:00:00
abstract：:The alkaline phosphatases comprise a multigene enzyme family that hydolyze phosphate esters and are widely distributed in nature. Three main classes have been isolated from humans, the placental, intestinal, and liver/bone/kidney forms. We have mapped the placental and intestinal alkaline phosphatase genes to 2q34-q37...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1987-12-01 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
pub_type： 杂志文章
doi：
更新日期：1983-07-01 00:00:00
abstract：:Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2009.10.018
更新日期：2009-12-01 00:00:00
abstract：:Esterase D (EsD), purified from human erythrocytes and tested with a variety of substrates, hydrolyzed only triacetin, tributyrin, and certain soluble aryl esters of aliphatic acids. Esters of 4-methylumbelliferone were easily the best substrates. When the three genetically different isozymes were compared, the less c...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotype...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/378777
更新日期：2003-11-01 00:00:00
abstract：:The authors had previously mapped a new locus-DFNA17, for nonsyndromic hereditary hearing impairment-to chromosome 22q12.2-q13. 3. DFNA17 spans a 17- to 23-cM region, and MYH9, a nonmuscle-myosin heavy-chain gene, is located within the linked region. Because of the importance of myosins in hearing, MYH9 was tested as ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/S0002-9297(07)62942-5
更新日期：2000-11-01 00:00:00
abstract：:Genome regions containing multiple copies of homologous genes, such as the immunoglobulin (Ig) heavy-chain constant-region (IGHC) locus, are often unstable and give rise to duplicated and deleted haplotypes. Analysis of such processes is fundamental to understanding the mechanisms of evolution of multigene families. I...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
abstract：:Increased male prevalence has been repeatedly reported in several neurodevelopmental disorders (NDs), leading to the concept of a "female protective model." We investigated the molecular basis of this sex-based difference in liability and demonstrated an excess of deleterious autosomal copy-number variants (CNVs) in f...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2014.02.001
更新日期：2014-03-06 00:00:00
abstract：:Chromosomal aneuploidy is usually identified by cytogenetic methods. However, for some purposes it would be desirable to have an easier method of recognizing specific trisomies or monosomies. We have devised such an assay. It involves the simultaneous hybridization of two chromosome-specific DNA probes labeled with di...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-10-01 00:00:00
abstract：:DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11. Our results indicate that c-Ha-ras-1 is closely linked to both the beta-g...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2009.05.010
更新日期：2009-07-01 00:00:00
abstract：:A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster-human somatic cell hybrid that contained human chromosomes 13, 12, and 6p. A total of 733 phages were identified that contain human DNA inserts, and 46 single-copy subfragments have been derived and used as probe...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1984-01-01 00:00:00
abstract：:The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy (DM). Six APOC2 RFLPs (TaqI, BglI, BanI, BamHI, NcoI, and AvaII) have been identified to date. We have conducted a com...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we hav...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-08-01 00:00:00
abstract：:The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilib...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1982-09-01 00:00:00
abstract：:Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found tw...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
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 ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-05-01 00:00:00
abstract：:In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. We propose a Monte Carlo procedure based on th...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1992-12-01 00:00:00
abstract：:Cellular DNAs from a panel of 20 unrelated individuals were screened for restriction fragment length polymorphisms (RFLP) with a DNA probe containing the first exon of the proopiomelanocortin gene (POMC), which has been assigned to chromosome 2p23-25. Digestion with the restriction endonuclease Sst 1 revealed a high f...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
