[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of Gene].

Objective: To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws, and explore the effects of a newly discovered rare mutation () on clinical phenotypes.

Methods: Blood samples of the proband and her family members were collected for blood routine analysis, and the hemoglobin components were analyzed by capillary electrophoresis. The common α- and β-globin gene loci in Chinese population were detected by conventional techniques (Gap-PCR, RDB-PCR).

[Cases Analysis of Hemoglobin H Disease Caused by and Mutations].

Objective: To investigate two cases of rare pathogenic genes, initiation codon mutations in gene, combined with Southeast Asian deletion and their family members to understand the relationship of and mutations with clinical phenotype.

Methods: The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis. Gap-PCR and reverse dot blotting (RDB) were used to detect common types of mutations in ɑ-thalassaemia gene.

[Methodological Evaluation of Microarray in the Detection of α-Thalassemia].

Objective: To proceed the clinical evaluation of DNA microarray for thalassemia gene detection.

Methods: Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated.

Pedigree Analysis of Nonhomologous Sequence Recombination of and Genes.

The aim of this study was to investigate a family with nonhomologous sequence recombination of and genes and provide a favorable basis for genetic counseling and eugenics. Peripheral blood of family members was collected. Hematological parameters were determined by an automated cell counter and hemoglobin (Hb) analysis was performed using high performance liquid chromatography (HPLC).

[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].

X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities.

[Application of multiplex ligation-dependent probe amplification to diagnosis and prenatal diagnosis of common aneuploidies].

Objective: To investigate the application value of the multiplex ligation-dependent probe amplification (MLPA) technique in diagnosis and prenatal diagnosis of chromosomes 13, 18, 21, X and Y aneuploidy.

Methods: Forty-four cases including 30 peripheral blood samples, 10 fetal cord blood samples, and 4 amniotic fluid samples were collected in this study. DNA was isolated from the samples and detected by MLPA, followed by analyzing in ABI310 Genetic Analyzer.