[Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene].

OBJECTIVE To explore the clinical features of patients carrying deletions of the rod domain of the dystrophin gene. METHODS Clinical data of 12 Chinese patients with Becker muscular dystrophy (BMD) and such deletions was reviewed. RESULTS Most patients complained of muscle weakness of lower limbs.

[Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].

Objective: To explore the significance of SMN1 gene mutations among patients with spinal muscular atrophy (SMA) and the value of multiplex ligation dependent probe amplification (MLPA) for its diagnosis.

Methods: Potential mutations of the SMN1 gene were detected among 78 SMA patients with a MLPA assay.

Results: Homozygous deletion of SMN1 exons 7 and 8 was detected in 70 (89.

Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.

Background: The aim of this study was to establish a sensitive method that can detect the presence of not only the common but also the unusual or unknown α-globin gene deletions for screening of α-thalassemia. We used quantitative multiplex PCR of short fluorescent fragments (QMPSF) for the α-globin genes (HBA) to screen α-thalassemia deletions.

Methods: We set up and validated HBA-QMPSF using 50 negative and 100 positive controls of deletional α-thalassemia.

[Clinical, familial and hereditary analysis of myotonic dystrophy].

Objective: To analyze the clinical, familial and hereditary features of myotonic dystrophy to improve the knowledge and provide molecule evidence for gene diagnosis and prenatal diagnosis of myotonic dystrophy or dystrophia myotonia (DM) families.

Methods: Clinical data of 2 DM families were collected based on the probands. The number of trinucleotide CTG repeat in the 3' untranslated region of myotonic dystrophy protein kinase (DMPK) gene on chromosome 19 was determined by DNA sequence and repeat fragment.

[Study on clinical manifestation, genotype and genetic characteristics of two Kennedy disease pedigrees].

Objective: To investigate the clinical manifestations, genotypes, and genetic characteristics of two pedigrees with Kennedy disease.

Methods: The clinical data of the patients from two Kennedy disease families were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.