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Wu H.-M.,Southern Medical University | Li L.,Southern Medical University | Yuan X.-W.,Southern Medical University | Zhou Y.-Q.,Zhuhai Institute of Medical Genetics | And 4 more authors.
Blood Cells, Molecules, and Diseases | Year: 2011

Mutations of the TMPRSS6 gene are considered the major genetic factors for iron-refractory iron deficiency anemia (IRIDA). Artificial clone libraries containing 17 known mutations of the TMPRSS6 gene were used to develop a high-resolution melting (HRM) assay for the detection of 17 TMPRSS6 gene mutations. The melting temperatures and melting curves were able to distinguish the different genotypes of the 17 TMPRSS6 gene mutations. We used replicate experiments to evaluate the reproducibility of the assay, and the coefficients of variation were in the range 0.0091% to 0.0873%. A total of 145 Chinese patients with IDA were screened with this assay and no TMPRSS6 gene causative mutation was found in any patient. The HRM assay was proved to be rapid, accurate and cost-effective method to identify the TMPRSS6 gene mutations and can be used in the clinical diagnosis of IRIDA. © 2011 Elsevier Inc. Source


Xie J.-H.,Zhuhai Institute of Medical Genetics | Qu J.-H.,BGI Shenzhen | Xiao Q.-Z.,Zhuhai Institute of Medical Genetics | Zhou Y.-Q.,Zhuhai Institute of Medical Genetics
Chinese Journal of Medical Genetics | Year: 2013

Objective: To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS). Methods: DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced. Results: DNA sequencing revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation. Conclusion: A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient. Source


Jiang F.,BGI Shenzhen | Ren J.,Jinan University | Chen F.,BGI Shenzhen | Zhou Y.,Zhuhai Institute of Medical Genetics | And 30 more authors.
BMC Medical Genomics | Year: 2012

Background: Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods. We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student's t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results: 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion: Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. © 2012 Jiang et al.; licensee BioMed Central Ltd. Source

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