Abstract：
:The residual beta-D-galactosidase activity (10% of normal) present in an autopsy sample of liver derived from an I-cell patient has been characterized. The pH optima for both I-cell and normal acid 4-methylumbelliferyl beta-D-galactoside activities were 4.35. The adsorption and elution profiles of the I-cell enzyme from Con A-Sepharose were similar to those of normal liver beta-D-galactosidase. Although starch gel electrophoresis revealed the presence of beta-D-galactosidase A and B in I-cell disease liver, the A band was more diffuse and migrated less anodally than the A band from normal liver. The electrophoretic mobilities of both I-cell and normal beta-D-galactosidase A appeared to decrease after treatment with neuraminidase. Kinetic studies of the I-cell and normal level beta-D-galactosidase demonstrated similar apparent Km values with respect to the 4-methylumbelliferyl beta-D-galactoside and Gm1 ganglioside, whereas the Vmax values obtained for the I-cell enzyme were 10- to 12-fold lower than those of the normal enzyme for both substrates.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Holmes EW,Miller AL,Frost RG,O'Brien JSsubject
Has Abstractpub_date
1975-11-01 00:00:00pages
719-27issue
6eissn
0002-9297issn
1537-6605journal_volume
27pub_type
杂志文章abstract：:Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutations have been recentl...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/342719
更新日期：2002-10-01 00:00:00
abstract：:Insulin resistance and hyperinsulinemia are strong correlates of obesity and type 2 diabetes, but little is known about their genetic determinants. Using data on nondiabetics from Mexican American families and a multipoint linkage approach, we scanned the genome and identified a major locus near marker D6S403 for fast...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/320100
更新日期：2001-05-01 00:00:00
abstract：:Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/424695
更新日期：2004-10-01 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：: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：:The ascertainment problem arises when families are sampled by a nonrandom process and some assumption about this sampling process must be made in order to estimate genetic parameters. Under classical ascertainment assumptions, estimation of genetic parameters cannot be separated from estimation of the parameters of th...
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：:Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the "Madelung deformity." SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients wi...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/449313
更新日期：2005-10-01 00:00:00
abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...
journal_title：American journal of human genetics
pub_type： 临床试验,杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：:A model is considered to calculate effects of genetic drift on the expected proportion of new mutants amongst males affected by a sex-linked recessive lethal. We show how to relate the number of cases of the disorder in males to the expected deviations from the deterministic value of the proportion of new mutants. For...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1979-03-01 00:00:00
abstract：:The genetic map in the region of human chromosome 7 that harbors the gene for cystic fibrosis (CF) has been refined by multilocus linkage studies in an expanded database including a large set of normal families. Six loci known to be linked to CF were examined: MET, an oncogene; COL1A2, collagen, TCRB, T-cell-receptor ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-01-01 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：:Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition to traditional QTLs by association, allele-specific (AS) QTLs are a powerful measure of cis-regulati...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2019.12.011
更新日期：2020-02-06 00:00:00
abstract：:An elevated level of erythrocyte sodium-lithium (Na-Li) countertransport has been suggested as a predictor of predisposition to essential hypertension. In order to evaluate whether a single genetic or environmental factor with large effects explains the mixture of distributions in Na-Li countertransport in the general...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-06-01 00:00:00
abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-11-01 00:00:00
abstract：:Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Ski...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/499338
更新日期：2006-01-01 00:00:00
abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/519495
更新日期：2007-08-01 00:00:00
abstract：:The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this study was to identify the target gene(s) and the functional variant(...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2015.06.010
更新日期：2015-08-06 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：:Epigenetic modifications, including DNA methylation, represent a potential mechanism for environmental impacts on human disease. Maternal smoking in pregnancy remains an important public health problem that impacts child health in a myriad of ways and has potential lifelong consequences. The mechanisms are largely unk...
journal_title：American journal of human genetics
pub_type： 杂志文章,meta分析
doi：10.1016/j.ajhg.2016.02.019
更新日期：2016-04-07 00:00:00
abstract：:Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we rep...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/375039
更新日期：2003-05-01 00:00:00
abstract：:A mutation in transthyretin (TTR Asn 90) has been identified in the Portuguese and German populations. This variant has a lower pI and was found by screening analyses in 2/4,000 German subjects and in 4/1,200 Portuguese by using either double one-dimensional (D1-D) electrophoresis with isoelectric focusing (IEF) or hy...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and th...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1986-10-01 00:00:00
abstract：:Neuroblastoma is a cancer of the developing sympathetic nervous system. It is diagnosed in 600-700 children per year in the United States and accounts for 12% of pediatric cancer deaths. Despite recent advances in our understanding of this malignancy's complex genetic architecture, the contribution of rare germline va...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2019.07.020
更新日期：2019-09-05 00:00:00
abstract：:A convenient and reliable method for simulatneous visualization of silver staining (Ag-NOR) of the nucleolus organizers and fluorescent bandings in metaphase chromosomes is described. Studies employing this combined procedure on human chromosomes revealed that the Ag-NOR patterns may be characteristic for each chromos...
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：:It is generally accepted that the blood group subtypes A1 and A2 expressions are controlled by two different blood group N-acetylgalactosaminyl-transferases, that is, A1-enzyme and A2-enzyme, respectively, and that the two types of enzymes are governed by the allelic A1 and A2 genes. The observed frequencies of blood ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-11-01 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：:In the present report, we summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21 nondisjunction. We used two cytogenetic approaches--fluorescent in situ hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding--to distinguish chromosome 21 h...
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：:Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutati...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/431313
更新日期：2005-07-01 00:00:00
abstract：:It has been observed that multiple sulfatase deficiency disorder (MSDD) fibroblasts contained from profoundly deficient to near normal amounts of arylsulfatase (ARS) A depending on the medium in which they were cultured. Our present findings show that the major factor determining the enzyme level is the pH of the medi...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1979-09-01 00:00:00
abstract：:Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this maternally inherited disease....
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-10-01 00:00:00
