Abstract：
:We screened DNA from unrelated individuals for RFLPs in the muscle nicotinic acetylcholine receptor (AcChoR) genes. These RFLP markers can be used for genetic linkage and association studies to test the hypothesis that receptor structure or regulation is involved in the development of myasthenia gravis (MG). The cDNAs from four subunits (alpha, beta, gamma, and delta) of the murine muscle AcChoR were used as probes to identify RFLPs in the homologous human genes. Digestion of DNA from 15 unrelated individuals with a set of 10 restriction enzymes revealed 11 RFLPs. At least one RFLP was found for each subunit gene. Eight RFLPs were found at the linked gamma and delta gene loci, six with minor allele frequencies greater than 15%, making that linkage group a very informative marker locus (PIC = .72). PIC values were calculated for the RFLPs from allele and haplotype frequency estimates obtained from a population sample of 53 individuals. The delta gene was assigned by in situ hybridization to region q31----q34 of chromosome 2. All pairs of RFLPs were analyzed for linkage disequilibrium. Of the 16 pairs of RFLPs from the same gene or from the linked gamma and delta genes, 13 pairs showed evidence of disequilibrium that was significant, with P less than .05. The implications of these results are discussed.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Lobos EA,Rudnick CH,Watson MS,Isenberg KEsubject
Has Abstractpub_date
1989-04-01 00:00:00pages
522-33issue
4eissn
0002-9297issn
1537-6605journal_volume
44pub_type
杂志文章abstract：:Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenit...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-02-01 00:00:00
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
更新日期：2002-06-01 00:00:00
abstract：:Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutatio...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/427956
更新日期：2005-02-01 00:00:00
abstract：:To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality thresholds, data from 4,506 markers in 2,692 individuals were included ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/444547
更新日期：2005-09-01 00:00:00
abstract：:A genomewide screen for quantitative-trait loci (QTLs) that underlie asthma was performed on 533 Chinese families with asthma, by the unified Haseman-Elston method. Nine asthma-related phenotypes were studied, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), airway responsiveness as indic...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/324650
更新日期：2001-12-01 00:00:00
abstract：:Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component, with evidence of linkage to chromosomes 6p21.3 (PDB1) and 18q21-22 (PDB2) in some pedigrees. There is evidence of genetic heterogeneity, with other pedigrees sh...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/338658
更新日期：2002-02-01 00:00:00
abstract：:Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2010.03.011
更新日期：2010-05-14 00:00:00
abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...
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：: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
更新日期：2003-02-01 00:00:00
abstract：:Aberrant gene expression underlies many human diseases. RNA polymerase II (Pol II) pausing is a key regulatory step in transcription. Here, we mapped the locations of RNA Pol II in normal human cells and found that RNA Pol II pauses in a consistent manner across individuals and cell types. At more than 1,000 genes inc...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2019.08.003
更新日期：2019-10-03 00:00:00
abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1978-05-01 00:00:00
abstract：:Structural variations are among the most frequent interindividual genetic differences in the human genome. The frequency and distribution of de novo somatic structural variants in normal cells is, however, poorly explored. Using age-stratified cohorts of 318 monozygotic (MZ) twins and 296 single-born subjects, we desc...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2011.12.009
更新日期：2012-02-10 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：:Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or undetectable enzymatic a...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
abstract：:Although recent studies provide evidence for a common genetic basis between complex traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-specific manner remains elusive. Here, we have quantified the overlap of genes identified through large-scale genome-wide association studies (GW...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2018.08.017
更新日期：2018-10-04 00:00:00
abstract：:A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and n...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1979-07-01 00:00:00
abstract：:Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of su...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/500808
更新日期：2006-03-01 00:00:00
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
更新日期：2017-05-04 00:00:00
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
更新日期：1999-09-01 00:00:00
abstract：:Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. On the basis of a linkage analysis o...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/301642
更新日期：1997-12-01 00:00:00
abstract：:The parental origin of the supernumerary chromosome 18 was investigated by RFLP analysis in 23 individuals with Edwards syndrome. All families were studied with the DNA probe pERT-25, which recognizes a locus of highly polymorphic tandemly repeated DNA sequences on chromosome 18. The extra chromosome was found to be o...
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：:Cisplatin, a platinating agent commonly used to treat several cancers, is associated with nephrotoxicity, neurotoxicity, and ototoxicity, which has hindered its utility. To gain a better understanding of the genetic variants associated with cisplatin-induced toxicity, we present a stepwise approach integrating genotyp...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/519850
更新日期：2007-09-01 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：:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we ident...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/320605
更新日期：2001-06-01 00:00:00
abstract：:Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectu...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2016.02.006
更新日期：2016-03-03 00:00:00
abstract：:Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1986-07-01 00:00:00
abstract：:We have developed a technique called "LSSP-PCR" (low-stringency single specific primer PCR) that detects single or multiple mutations in DNA. A purified DNA fragment is submitted to PCR by using a single primer specific for one of the extremities of the fragment, under conditions of very low stringency. The primer hyb...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-03-01 00:00:00
abstract：:Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing regions are described. In situ hybridization with a battery of biotinylated pericentric repeat probes specific either for individual chromosomes or for groups of chro...
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：:Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctiv...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.10.019
更新日期：2012-12-07 00:00:00
abstract：:Ninety extended families having one or more individuals affected with nonsyndromic cleft lip (CL) with or without cleft palate (CL/P) were ascertained in rural West Bengal, India. These families included 138 affected people, 64% of whom had CL alone and 66% of whom were male. Multiple-affected-member ("multiplex") ped...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
