Molecular Diagnostics in China

@inproceedings{Lan2001MolecularDI,
  title={Molecular Diagnostics in China},
  author={Feng-hua Lan},
  booktitle={Clinical chemistry and laboratory medicine},
  year={2001}
}
  • F. Lan
  • Published in
    Clinical chemistry and…
    7 January 2001
  • Biology, Medicine
Abstract Molecular diagnostics is changing the face of clinical laboratories and laboratory medicine. The case of China is no exception. In the present paper, a brief description on this promising discipline is given first, followed by an overview of the development of molecular diagnostics in China. Work done in the author's own laboratory is introduced in the third part and a short discussion on the challenges ahead is provided last. 
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References

SHOWING 1-10 OF 17 REFERENCES
Prenatal diagnosis of α-thalassemia: clinical application of molecular hybridization.
TLDR
The technic of DNA-DNA hybridization was used for prenatal diagnosis of a pregnancy at risk for homozygous α-thalassemia-1, and the results indicated that the fetus had α-THS-1. Expand
A novel missense mutation (C329Q) in factor VIIgene
TLDR
FVII is a vitamin-K-dependent plasma glycoprotein synthesized in the liver and circulates in the blood as an inactive zymogen upon vascular injury and the presence of tissue factor, which cleaves it to its active form, FVIIa. Expand
Detection of Shigella and enteroinvasive Escherichia coli using polymerase chain reaction.
Two oligonucleotide primers were used in a polymerase chain reaction (PCR) procedure to amplify a region of the invasive-associated locus (ial) of Shigella and enteroinvasive Escherichia coli (EIEC).Expand
Identification of a novel point mutation (Leu72Pro) in the NADH‐cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I
TLDR
Investigating the b5R gene of a Chinese patient with hereditary methaemoglobinaemia type I found a novel missense mutation (CTC‐CCC) at codon 72 in exon 3 of the gene and predicted that the residue replacement of Leu with Pro of the mutant enzyme would account for the b 5R deficiency in the patient. Expand
Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization.
TLDR
The technic of DNA-DNA hybridization was used for prenatal diagnosis of a pregnancy at risk for homozygous alpha-thalassemia-1, and the results indicated that the fetus had alpha-globin-1. Expand
A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.
TLDR
The results showed that the catalytic activity of the enzyme was not much affected by this amino acid substitution, but the mutant enzyme exhibited decreased heat stability and increased susceptibility to trypsin, which would account for the restricted b5R deficiency and mild clinical manifestations of these type 1 patients. Expand
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specificExpand
Initial sequencing and analysis of the human genome.
TLDR
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence. Expand
A compound heterozygote in the NADH-cytochrome b5 reductase gene from a Chinese patient with hereditary methemoglobinemia type I.
TLDR
A compound heterozygote first observed in the b5R gene from a patient with hereditary methemoglobinemia type I is discussed. Expand
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP
TLDR
Three disease-specific mutations within the dentin sialophosphoprotein gene (DSPP) are identified and demonstrated for the first time that distinct mutations in DSPP are responsible for the clinical manifestations of DGI1 with or without DFNA39. Expand
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