Abstract:
:The genetic linkage of the loci for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase (ESD) were examined by two-dimensional gel electrophoresis using blood from four informative families. No recombinants were observed in the four families totaling 17 children, giving a summed lod score of 4.221 at recombination fraction 0. This result indicates that the gene for LCP1 is closely linked to the ESD locus, which is assigned to the chromosomal region 13q14.11. This finding also suggests that the LCP1 locus is linked to the retinoblastoma gene, which is assigned to the same chromosomal region and closely linked to the ESD locus.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Kondo I,Hamaguchi Hsubject
Has Abstractpub_date
1985-11-01 00:00:00pages
1106-11issue
6eissn
0002-9297issn
1537-6605journal_volume
37pub_type
杂志文章abstract::Misspecification of transmission model parameters can produce artifactually negative lod scores at small recombination fractions and in multipoint analysis. To avoid this problem, we have tried to devise a test that aims to detect a genetic effect at a particular locus, rather than attempting to estimate the map posit...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract::Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations--t(4;17),t(5;13),t(6;7), and t(9;18)--was studied. Frequencies of numerical abnormalities unrelated to the translocations range from 8.3% to 13.3%, and the incidence of imbalances ranges from 23....
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::Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed th...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2010.05.001
更新日期:2010-06-11 00:00:00
abstract::Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302243
更新日期:1999-02-01 00:00:00
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
更新日期:2007-06-01 00:00:00
abstract::Case-control studies compare marker-allele distributions in affected and unaffected individuals, and significant results suggest linkage but may simply reflect population structure. For markers with m alleles (m > or = 2), a McNemar-like statistic, I, estimates the level of population association between marker and di...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1997-03-01 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::Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1995-11-01 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::We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early dea...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2014.12.013
更新日期:2015-02-05 00:00:00
abstract::In this report, we describe a simple correction for multiple testing of single-nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with each other, on the basis of the spectral decomposition (SpD) of matrices of pairwise LD between SNPs. This method provides a useful alternative to more computationally inte...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/383251
更新日期:2004-04-01 00:00:00
abstract::To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the dis...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1996-04-01 00:00:00
abstract::The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetic...
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::Recombination rates vary both across the genome and between different species, but little information is available about the temporal and physical scales over which such rates change. To shed light on these questions, we performed a high-resolution analysis of a genomic region within the beta-globin gene cluster that ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/380311
更新日期:2003-12-01 00:00:00
abstract::We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302927
更新日期:2000-06-01 00:00:00
abstract::We describe a log-linear method for analysis of case-parent-triad data, based on maximum likelihood with stratification on parental mating type. The method leads to estimates of association parameters, such as relative risks, for a single allele, and also to likelihood ratio chi2 tests (LRTs) of linkage disequilibrium...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301802
更新日期:1998-04-01 00:00:00
abstract::Ehlers-Danlos syndrome (EDS) type IV is a dominantly inherited disorder that results from mutations in the type III collagen gene (COL3A1). We studied the structure of the COL3A1 gene of an individual with EDS type IV and that of her phenotypically normal parents. The proband was heterozygous for a 2-kb deletion in CO...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
abstract::A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion m...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract::A chromosome in an individual of recently admixed ancestry resembles a mosaic of chromosomal segments, or ancestry blocks, each derived from a particular ancestral population. We consider the problem of inferring ancestry along the chromosomes in an admixed individual and thereby delineating the ancestry blocks. Using...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/504302
更新日期:2006-07-01 00:00:00
abstract::In a female infant with dysmorphic features, severe neurological defects, and congenital blindness, a positive urinary Bratton-Marshall test led to identification of a massive excretion of 5-amino-4-imidazolecarboxamide (AICA)-riboside, the dephosphorylated counterpart of AICAR (also termed "ZMP"), an intermediate of ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/421475
更新日期:2004-06-01 00:00:00
abstract::At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-d...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/340604
更新日期:2002-06-01 00:00:00
abstract::The National Research Council recommended the use of the ceiling principle in forensic applications of DNA testing on the grounds that the ceiling principle was believed to be "conservative," giving estimates greater than or equal to the actual genotype frequencies in the appropriate reference population. We show here...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-08-01 00:00:00
abstract::Several spin-label electron paramagnetic resonance (EPR) studies of red cell membranes appear to show abnormalities in some Huntington disease (HD) patients, but not in others. Both studies measure the W/S ratios, presumably under similar conditions, but have different results. We have studied the W/S ratio in some de...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1982-05-01 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::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:
更新日期:1995-03-01 00:00:00
abstract::Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1994-11-01 00:00:00
abstract::SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locu...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2017.01.014
更新日期:2017-02-02 00:00:00
abstract::Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develo...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract::Allele-specific replication differences have been observed in imprinted chromosomal regions. We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1996-08-01 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