9,989 Result(s)
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Article
A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique
A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A ch...
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Article
The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families
Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eig...
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Article
PI LBEI and PI JHOU: two new alpha-1-antitrypsin alleles
Two new variants of alpha-1-antitrypsin were found in a Chinese population by isoelectric focusing in polyacrylamide gel. They have been named Lbei**g (PI*LBEI) and Jhouyao (PI*JHOU) respectively. With the sampl...
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Article
Geographical variability of alpha-1-antitrypsin alleles in China: A study on six Chinese populations
Alpha-1-antitrypsin phenotypes of six Chinese Han populations (20°–45°N. latitude) were determined. The frequency of allele M2 increases from North to South China. The north-south change of M2 appears to be ma...
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Article
Humanβ:α but not γ interferon binding site is a product of the chromosome 21 interferon action gene
The binding of human interferons to their binding site(s) was measured by the amount of radioiodinated human beta Interferon (HuIFNβ) displaceable by unlabeled human beta, alpha, and gamma Interferon (HuIFNβ, .....
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Article
Alpha-1-antitrypsin types in five Chinese national minorities
The frequencies of alpha-1-antitrypsin alleles were determined for five Chinese national minorities: Uigur, Korean, Mongolian, Chuang, and Li. PI*S and PI*Z alleles are not found in the five populations studied. ...
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Article
Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia
Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal bre...
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Article
Regional localization of the gene coding for sphingolipid activator protein SAP-1 on human chromosome 10
Sphingolipid activator protein SAP-1 is required for the enzymatic hydrolysis of GMI ganglioside and sulfatide. The gene coding for SAP-1 was previously mapped to human chromosome 10 using monospecific antibod...
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Article
Molecular characterization of different ataxia telangiectasia T-cell clones
Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor α-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was transl...
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Article
Molecular basis of β thalassemia in South China
The phenotype of β thalassemia can be caused by over 40 different mutations. To set up a prenatal diagnosis program using DNA analysis, it is important to determine the type and frequency of mutation in a part...
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Article
Map** of human fibronectin receptorβ subunit gene to chromosome 10
Human-mouse hybrid cells were examined by indirect immunofluorescence with Mab DH12, a monoclonal antibody that recognizes the β subunit of the human fibronectin receptor. Cells that expressed the antigen at t.....
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Article
Molecular characterization of ataxia telangiectasia T cell clones
We compared inversions of chromosome 14 in an ataxia telangiectasia clone and in a malignant T cell line (SUPT1). The R-banding chromosome analysis showed a clear difference between the distal breakpoint of th...
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Article
DA/DAPI-Fluorescent heteromorphism of human Y chromosome
Variation of DA/DAPI intensity in the Yq12 band was observed in five amniotic cell specimens and one blood specimen from the father of one fetus. Three distinct classes of Yq heterochromatin were identified by...
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Article
Identification and germline transformation of the ribosomal protein rp21 gene of Drosophila: Complementation analysis with the Minute QIII locus reveals nonidentity
Minute loci represent a class of about 50 different Drosophila genes that appear to be functionally related. These genes may code for components of the protein synthetic apparatus. While one Minute locus has bee...
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Article
Molecular characterization of ataxia telangiectasia T cell clones
To delimit the 14q32.1 recurrent breakpoint of ataxia telangiectasia clones, we performed an in situ hybridization study with various probes located on the 14q32 band. We thus mapped this breakpoint between th...
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Chapter
Association Between Myasthenia Gravis and HLA Bw46, BfS, C4A4, C4B2, DRw9 in Chinese
Adult onset myasthenia gravis (MG) is associated with A1,B8,DR3 in Caucasians (1). Complement alloty** has shown that patients with Al,B8,DR3 also have BfS,C4Q0,C4B1 indicating that the susceptibility gene(s...
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Chapter
Complementation Studies in Fanconi Anemia
Fanconi anemia (FA) was originally described as an autosomal recessive disorder characterized by a progressive pancytopenia, diverse congenital abnormalities, and an increased predisposition to the development...
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Chapter
Diepoxybutane Test for Prenatal and Postnatal Diagnosis of Fanconi Anemia
Patients with Fanconi anemia (FA) show considerable heterogeneity in the age of onset, phenotypic expression, and clinical course of the disease, making diagnosis of the disorder on the basis of clinical manif...
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Article
The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561
The polymerase chain reaction (PCR) method was used to amplify a 356-bp DNA segment containing the suspected BamHI polymorphic site of the factor IX gene. Following the enzyme digestions and gel electrophoresis, ...
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Article
Extinction of rhesus monkeys (Macaca mulatto) in **nglung, North China
An isolated population of rhesus monkeys living in **nglung County, north of Bei**g (latitude 40⪤gree N), was a natural population at the northernmost range of the species in Asia. Rhesu...