[Gene Diagnosis and Phenotypic Analysis of β-Thalassemia Caused from a Rare Synonymous Mutation CD29 (C>T)].

Objective: To investigate the gene diagnosis and phenotypes analysis for a couple with β-thalassemia suspected from of blood routine test and hemoglobin electrophoresis, as well as the prenatal gene diagnosis of the fetus.

Methods: The gene mutation of β-globin in the samples of peripheral blood of pregnant woman and her husband, as well as amniotic fluid of pregnant woman were analyzied and identified by using PCR-RDB and Sanger sequencing.

Results: The detection showed that the heterozygote mutation of IVS-Ⅱ-654 (C>T), which is common mutation of β-globin gene, existed in pregnant woman, while her husband carried a rare mutation CD29 (c.

A follow-up analysis of positron emission tomography/computed tomography in detecting hidden malignancies at the time of diagnosis of membranous nephropathy.

Membranous nephropathy (MN) is the most common kidney disease reported in a variety of malignant diseases. Search for an occult malignancy in MN has presented special challenges. 124 MN patients with a physical examination not suspicious for cancer underwent screening for an occult malignancy with either 18F-Fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) scanning (n = 49) or conventional screening (n = 75) at the time of diagnosis of MN, and were followed up (median,28 months).

[Gene diagnosis for a child with tuberous sclerosis].

Objective: To identify the pathogenic mutation in a family affected with tuberous sclerosis.

Methods: For the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and bioinformatics tools.

Results: A heterozygous c.