[Establishment of B lymphoblastoid cell lines of Miao pedigree with Bardet-Biedl syndrome].

Objective: To establish immortalized lymphoblastoid cell lines of a Miao core pedigree with Bardet-Biedl syndrome (BBS), in order to provide a long-term source of material for research.

Methods: With Epstein-Barr virus transformation of B cells and addition of cyclosporine A to inhibit the activity of T cells, fresh anticoagulated blood samples with heparin were collected from 12 members of the core pedigree, and were used to establish the immortalized lymphoblastoid cell lines of B lymphocytes.

Results: Twelve immortalized lymphoblastoid cell lines of the core BBS pedigree were obtained successfully.

[Screening of differentially expressed genes from patients with Bardet-Biedl syndrome by gene chip analysis].

Objective: To investigate the differential gene expression profile from patients with Bardet-Biedl syndrome (BBS) by oligonucleotide microarray technique.

Methods: Total RNA of 3 probands with BBS and 4 healthy siblings were isolated from peripheral blood mononuclear cells and reverse-transcribed to cDNAs. Then the cDNAs were subjected for microarray screening with Affymetrix U133 Plus 2.

[Distribution of apoE polymorphism in Chinese Yunnan Dehong Dai ethnic group].

Objective: To investigate the distribution of apolipoprotein E (apo E) polymorphism in Chinese Dehong Dai and Kunming Han ethnic groups.

Methods: After the process of extracting genomic DNA from 171 Chinese Dehong Dai and 71 Chinese Kunming Han subjects, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to amplify the fourth exon of apoE, which contains site 112 and 158 in amino acid sequence, and the apoE polymorphism was detected.

Results: The genotyping frequencies of apolipoproteinE epsilon 2/2, epsilon 2/3, epsilon 2/4, epsilon3/3, epsilon3/4, epsilon4/4 in Dehong Dai were 0.