SINGLE NUCLEOTIDE POLYMORPHISM OF CHINESE CHILDREN WITH
SLE
Li C-F, Jiang Z-F, He X-H, Teng Q
Beijing
Children’s Hospital, Beijing, China
Objective: To study the Single
Nucleotide Polymorphism (SNP) and disease association genes of Chinese
children with Systemic Lupus Erythematosus(SLE) by analyzing the sequence
of HLA-DRB1*15 gene.
Methods: The gene sequence of HLA-DRB1*15 in 35 cases of SLE with
HLA-DRB1*15 was tested by Polymerase Chain Reaction - Single Strand
Conformational Polymorphism(PCR-SSCP) and PCR productions sequencing to
discover gene mutation.
Results: The results showed that
6 cases had C→G replacement mutation in 123th nucleotide resulting in D→E replacement (aspartic
acid to glutamic acid) in 41th amino acid. Clinical data showed that 4/6
cases with mutation had both lupus nephritis and CNS lupus, whereas 4/29
cases without mutation didn’t complicate with either lupus nephritis or
lupus encephalopathy.
Conclusion: HLA-DRB1*15 gene
mutation and replacement of amino acid were correlated with the severity of
SLE. We presumed that the clinical phenotypes of severe patients might be
due to the replacement of amino acid, which might result in changes of the
construction of HLA molecule and influence their functions.