Publications by authors named "Chuan-Shu Du"
Article Synopsis
- The study aimed to identify mutations in the IDS gene associated with Hunter syndrome, establishing a basis for prenatal diagnosis.
- Using urine GAG assays, PCR, and DNA sequencing, researchers discovered a new missense mutation (T1140C) in exon 8 of the IDS gene, altering a critical codon.
- This mutation likely affects the IDS protein's structure and function, contributing to the patient's condition as a hemizygote, while his mother is a heterozygote for the mutation.
Article Synopsis
- Mutations in the IDS gene cause Hunter syndrome, and identifying these mutations can help with prenatal genetic testing.
- A 6-year-old boy with symptoms of mucopolysaccharidosis (MPS) type II was studied alongside his parents to find a mutation in the IDS gene.
- DNA testing revealed a new frame-mutation in exon 9 of the IDS gene in the boy, leading to a shortened peptide chain, while his mother carried a heterozygous form of the mutation.
[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2006
Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.
Methods: Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene.
Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2005
Article Synopsis
- A new technique called denaturing high performance liquid chromatography (DHPLC) was developed to effectively screen for G6PD deficient variants in patients from China.
- DHPLC demonstrated higher accuracy and efficiency compared to traditional methods like ARMS and DNA sequencing, identifying various G6PD variants in a study of 124 patients.
- The method not only provided rapid results at a low cost, but also successfully detected heterozygous females, highlighting its advantages for clinical use in identifying G6PD deficiencies.
-alpha3.7 is a common deletional alpha-thalassemia-2 in China. According to different recombination sites,-alpha3.
View Article and Find Full Text PDFTo investigate the genetic polymorphism of the StuI site in the GALNS gene from a national minority population in Guangdong and to study the mode of transmission of alleles,PCR-RFLP was used to analyze 144 chromosomes from 72 Guangdong unrelated healthy national minority individuals,and the genotypes of members in three families. To compare the frequencies and heterzygosity between Guangdong national minority people and Caucasians,Japanese and Chinese Han people by using chi2 test. The frequency of allele D1(295bp) was 0.
View Article and Find Full Text PDF[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].
Zhonghua Xue Ye Xue Za Zhi
October 2004
Objective: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.
Methods: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.
[Identification of G6PD gene variants from Hakka population in Guangdong province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2004
Objective: Studying on G6PD polymorphism from Hakka population in Guangdong province.
Methods: Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.
Results: Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.
[Study on gene mutations of alpha-thalassemia in the South of China].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
February 2003
There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used.
View Article and Find Full Text PDF