ABSTRACT
Objective To study the clinical application value of the multiple link dependency probe amplification (MLPA) technology combined with chromosomes karyotype analysis in detecting child development abnormalities .Methods 87 children of growth and development abnormality were collected .Peripheral blood samples were extracted for conducting traditional G -banded karyotype analysis .Moreover the MLPA technique was applied to conduct the chromosome microdeletion detection .The chromo-some situation in children of development abnormality was analyzed .Results Among 87 children patients ,22 cases of abnormal karyotype were detected out ,the abnormality rate was 25 .3% ,including 10 cases of small Y chromosome karyotype(46 XY) ,2 cases of Turner syndrome ,2 case of 45 ,X karyotype ,1 case of 45 ,X/46 ,XY karyotype ,1 case of46 ,XY/45 ,XX karyotype ,1 case of 47 , XXY karyotype ,etc .Among 65 cases of normal karyotype ,microdeletion/microduplication was still found in 8 cases by MLPA . Conclusion The MLPA technology combined with karyotype analysis provide an effective and accurate detection flow process for clinically diagnosing child development abnormality and is conducive to increase the detection rate and accuracy of chromosomal abnormality .
ABSTRACT
Objective To investigate the antibiotic resistance profile and ftsⅠ genotypes of Haemophilus influenzae isolates from respiratory tract in children.Methods A total of 141 consecutive nonduplicate clinical strains of H.influenzae were collected from January to March 2016.Antimicrobial susceptibility was determined using Kirby-Bauer method.Beta-lactamase production was detected by nitrocefin disk test.PCR technique was employed for ftsⅠ genotyping.Antimicrobial resistance was compared between differentfisⅠ genotypes.Results The prevalence of β-lactamases was 40.4％ (57/141) in H.influenzae isolates.More than half (53.2％,75/141) of the strains were resistant to ampicillin.Mutation offtsI gene was positive in 72.3％ (102/141) of the isolates.The dominant genotype of genomic beta-lactamase-negative ampicillin-resistant (gBLNAR) strains was type Ⅲ (72/102,70.6％).The gBLNAR strains showed higher resistance rate to ampicillin and cefuroxime than the genomic beta-lactamase-negative ampicillin susceptible (gBLNAS) strains (P＜0.05).Conclusions High prevalence offisⅠgene mutation is found in the strains ofH.influenzae isolated from respiratory tract in children.The dominant genotype of gBLNAR strains was type Ⅲ.Mutation offtsⅠ gene in H.influenzae is associated with higher resistance rate to ampicillin and cefuroxime.