Abstract：
:To identify Chinese geneticists' views of ethical issues in genetic testing and screening, a national survey was conducted. Of 402 Chinese geneticists asked to participate, 255 (63%) returned by mail anonymous questionnaires. The majority of respondents thought that genetic testing should be offered in the workplace for alpha-antitrypsin deficiency (95%) and the predisposition of executives to heart disease, cancer, and diabetes (94%); that genetic testing should be included in preemployment physical examinations (86%); that governments should require premarital carrier tests (86%), newborn screening for sickle cell (77%), and Duchenne muscular dystrophy (71%); and that children should be tested for genes for late-onset disorders such as Huntington disease (85%), susceptibility to cancers (85%), familial hypercholesterolemia (84%), alcoholism (69%), and Alzheimer disease (61%). Most believed that partners should know each other's genetic status before marriage (92%), that carriers of the same defective gene should not mate with each other (91%), and that women should have a prenatal diagnosis if medically indicated (91%). The majority said that in China decisions about family planning were shared by the couple (82%). More than half had views that, in China, there were no laws to prohibit disability discrimination (64%), particularly to protect people with adult polycystic kidney disease (57%), cystic fibrosis (56%), or genetic predisposition to other diseases (50%). To some extent, these results might provide a basis for a discussion of eugenics in China, particularly about China's Maternal and Infant Health Care Law (1994).
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Mao Xdoi
10.1086/302020subject
Has Abstractpub_date
1998-09-01 00:00:00pages
688-95issue
3eissn
0002-9297issn
1537-6605pii
S0002-9297(07)61369-Xjournal_volume
63pub_type
杂志文章abstract：:Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, edu...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-11-01 00:00:00
abstract：:Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2020.10.015
更新日期：2020-12-03 00:00:00
abstract：:Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals w...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2016.10.009
更新日期：2016-12-01 00:00:00
abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-08-01 00:00:00
abstract：:The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...
journal_title：American journal of human genetics
pub_type： 杂志文章,评审
doi：10.1086/340363
更新日期：2002-05-01 00:00:00
abstract：:Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the disease. However, the...
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：:In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed w...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/341327
更新日期：2002-07-01 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：:Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched chain amino acids and in the glycine cleavage. Lipoic acid is synthesized stepwise within mitochondria through a process that includes lipoic acid synthetase. ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2011.11.011
更新日期：2011-12-09 00:00:00
abstract：:The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a localization for the CLS...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1992-05-01 00:00:00
abstract：:To quantify the effect of the apolipoprotein (apo) E polymorphism on the magnitude of postprandial lipemia, we have defined its role in determining the response to a single high-fat meal in a large sample of (N = 474) individuals taking part in the biethnic Atherosclerosis Risk in Communities Study. The profile of pos...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-02-01 00:00:00
abstract：:The genomic sequences recognized by the anonymous probe 767 (DXS115) are localized to two sites within Xq28. One site lies within intron 22 of the factor VIII gene (FBC). Physical mapping suggests that the second site lies within 1.2 megabases of the F8C gene. The RFLPs detected by 767 are located within the second si...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:Despite the fact that hundreds of genes are known to affect fertility in animal models, relatively little is known about genes that influence natural fertility in humans. To broadly survey genes contributing to variation in male fertility, we conducted a genome-wide association study (GWAS) of two fertility traits (fa...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.04.016
更新日期：2012-06-08 00:00:00
abstract：:We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes and results in ti...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/368263
更新日期：2003-03-01 00:00:00
abstract：:Joubert syndrome (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities. Although JBTS was first described more than 40 years ago in French Canadian siblings, the causal mutations have no...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.02.011
更新日期：2012-04-06 00:00:00
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 scor...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
abstract：:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302488
更新日期：1999-08-01 00:00:00
abstract：:We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-12-01 00:00:00
abstract：:Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS). Identification of mutations in genes causing SRNS has improved our understanding of disease mechanisms and highlighted defects in the podocyte, a highly specialized glome...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2018.12.016
更新日期：2019-02-07 00:00:00
abstract：:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...
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：:Pedigrees used in the analysis of genetic or medical data are usually ascertained from sources subject to a variety of errors including misidentification of individuals, faults in historical documents or record linkage, nonpaternity, and unidentified adoption. Genetic markers can be used to verify putative family and ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-03-01 00:00:00
abstract：:The genetically inactive, late-replicating human female X chromosome can be effectively distinguished from its more active, earlier-replicating homologue, when cells are grown according to the appropriate BrdU-33258 Hoechst protocol. Results obtained from a fluorescence analysis of DNA replication in X chromosomes are...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1976-05-01 00:00:00
abstract：:Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/507848
更新日期：2006-10-01 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：:Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encodin...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/514843
更新日期：1997-08-01 00:00:00
abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1984-07-01 00:00:00
abstract：:X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with "X-linked dominant cone-rod degeneration." After clinical...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/303091
更新日期：2000-10-01 00:00:00
abstract：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...
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：:Attention-deficit hyperactivity disorder (ADHD) affects approximately 3%-5% of children in the United States. In the current psychiatric nomenclature, ADHD comprises three subtypes: inattentive, hyperactive-impulsive, and combined. In this study, we used four analytic strategies to examine the association and linkage ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302132
更新日期：1998-12-01 00:00:00
abstract：:Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
