Objective To investigate and analyze the influence of whole blood specimens storage time in blood routine examination parameters. Methods All 40 healthy cases were randomly selected, and all the whole blood specimens were stored at 4℃. 1,2,3,5 and 7 days after the blood sampling,the specimens were tested by Sysmex-XS1000 au-tomated hematology analyzer, and statistical analysis was conducted. Results The specimens were kept in refrigerator at 4℃,for 7 days, WBC, RBC, Hb, MCH, PLT, RDW-CV, N, L, M and E could still maintain stable. There was no significant difference(P>0.05)in comparing all the measurement data and the fresh sample measurement data. HCT,MCV,RDW-SD and B% gradually increased after 3 days, and MCHC gradually decreased. The difference was statis-tically significant (P<0.05). Conclusion Complete blood count specimens can store at 4℃ for 3 days. The results are relatively stable,and parts of main analysis indicators results can still remain stable for a week.

OBJECTIVETo assess the association of copy number variations of SMN1, SMN2, NAIP, GTF2H2 and H4F5 genes with clinical classification of spinal muscular atrophy in children, and determine the copy number of the SMN gene among pregnant women. A carrier screening was also performed in Sichuan province.

METHODSThe copy number variations of the above genes among 53 confirmed SMA patients were determined with MLPA technique. The copy number variations were analyzed by the Fisher's exact test. Deletion of exon 7 in the SMN1 gene was screened with denaturing high performance liquid chromatography (DHPLC) for 427 pregnant women.

RESULTSAmong the 53 cases of type I, II, and III SMA patients, the rate of homozygous deletion of both exons 7 and 8 of the SMN1 gene were 100%, 94.44% and 87.50%, respectively, whereas those of homozygous deletion of exon 7 of SMN1 gene were 0, 5.56%, and 12.50%, respectively. The patients with 1, 2, 3, and 4 copies of exon 7 of the SMN2 gene were 11.32%, 67.92%, 13.21% and 7.55%, respectively. The patients with 0, 1, and 2 copies of exon 5 of NAIP gene were 11.32%, 62.26%, and 26.42%, respectively. No deletion was detected in GTF2H2 or H4F5 genes. The heterozygous loss rate of exon 7 in SMN gene in the pregnant women population of Sichuan region was approximately 2.11%.

CONCLUSIONCopy number variations of SMN2 and NAIP genes in patients are related to SMA clinical types (P < 0.05). In contrast, there was no relationship between SMA clinical types and deletion of exons 7 and 8 in the SMN1 gene (P > 0.05). Analysis of copy number change in SMN1 gene can assist SMA carrier screening. However, when the general population without SMA family history is screened for disease-causing genes, it should be noted that the type "2+0" carriers may affect the screening result, and the result should be interpreted with caution.

Adolescent ; Child ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genetic Carrier Screening ; Humans ; Infant ; Male ; Neuronal Apoptosis-Inhibitory Protein ; genetics ; Spinal Muscular Atrophies of Childhood ; genetics ; Survival of Motor Neuron 1 Protein ; genetics

OBJECTIVETo analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.

METHODSMutation in the coding region of the COL9A2 gene was screened by Sanger sequencing in 200 subjects with pathological myopia and 200 normal controls. The detected variants were genotyped by SNaPshot method in another 200 myopic cases and 200 normal controls.

RESULTSSanger sequencing has failed to detect the reported D281fs frameshift mutation in the 200 cases. A novel variant, c.143G>C heterozygous missense mutation in exon 2, was identified in a myopic subject, and another novel variant, c.884G>A heterozygous missense mutation in exon 17, was found in another case. Neither was found in normal controls. One SNP (rs2228564) was detected in the coding region of the COL9A2 gene, but there was no significant difference in its allelic frequencies between the two groups (P> 0.05). Genotyping of the remainder 200 cases and 200 controls by SNaPshot method has found a c.143G>C in 1 case and c.884G>A in 2 cases, though no significant difference between the two groups was detected (P> 0.05).

CONCLUSIONThe D281fs frameshift mutation in the COL9A2 gene is not associated with pathological myopia in the studied Han Chinese population. Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Collagen Type IX ; genetics ; Frameshift Mutation ; Humans ; Myopia, Degenerative ; genetics ; Sequence Analysis, DNA

OBJECTIVETo investigate association between the lysyl oxidase-like 1 (LOXL1) gene single nucleotide polymorphism (SNP) and primary open-angle glaucoma (POAG) in Sichuan population.

METHODSIn this study,416 subjects with primary open-angle glaucoma and 997 normal controls were recruited.Three reported LOXL1 tag SNPs (rs1048661,rs3825942 and rs2165241) were genotyped by SNaPshot method.

RESULTSThe study showed that the genotypes of LOXL1 rs1048661,rs3825942 and rs2165241 between POAG and control groups were not statistically significant (OR=1.085, 95%CI 0.92-1.28, P=0.578 for rs1048661; OR=1.059, 95%CI 0.82-1.37, P=0.846 for rs3825942; OR=1.006, 95%CI 0.77-1.32, P=0.966 for rs2165241, respectively). There were no significant difference in allele frequency distribution of LOXL1 rs1048661、rs3825942 and rs2165241 between POAG and normal controls (P=0.322, P=0.660, P=0.965).

CONCLUSIONThe results from the present study do not indicate the association of LOXL1 SNPs (rs1048661, rs3825942 and rs2165241) with POAG in Sichuan population.

Adult ; Aged ; Aged, 80 and over ; Amino Acid Oxidoreductases ; genetics ; Asian Continental Ancestry Group ; genetics ; Glaucoma, Open-Angle ; genetics ; Humans ; Middle Aged ; Polymorphism, Single Nucleotide