scholarly journals The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica

Author(s):  
Qing-Song Wang ◽  
Hong-Qiong Xiao ◽  
Hua-Xian Chen ◽  
Yan-Ping Liu ◽  
Xu-Dong Ding
2010 ◽  
Vol 16 (8) ◽  
pp. 981-984 ◽  
Author(s):  
Marcelo Matiello ◽  
Janet Schaefer-Klein ◽  
Doralina G Brum ◽  
Elizabeth J Atkinson ◽  
Orhun H Kantarci ◽  
...  

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58—5.97, p = 1.18 × 10-09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36—0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.


2007 ◽  
Vol 05 (03) ◽  
pp. 795-816 ◽  
Author(s):  
MINZHU XIE ◽  
JIAN'ER CHEN ◽  
JIANXIN WANG

The individual haplotyping problem is a computing problem of reconstructing two haplotypes for an individual based on several optimal criteria from one's fragments sequencing data. This paper is based on the fact that the length of a fragment and the number of the fragments covering a SNP (single nucleotide polymorphism) site are both very small compared with the length of a sequenced region and the total number of the fragments and introduces the parameterized haplotyping problems. With m fragments whose maximum length is k1, n SNP sites and the number of the fragments covering a SNP site no more than k2, our algorithms can solve the gapless MSR (Minimum SNP Removal) and MFR (Minimum Fragment Removal) problems in the time complexity O(nk1k2 + m log m + nk2 + mk1) and [Formula: see text] respectively. Since, the value of k1 and k2 are both small (about 10) in practice, our algorithms are more efficient and applicable compared with the algorithms of V. Bafna et al. of time complexity O(mn2) and O(m2n + m3), respectively.


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