ABSTRACT
OBJECTIVE@#To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/β complex thalassemia couple.@*METHODS@#The coding regions of α-globin genes (HBA1, HBA2) and β-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis.@*RESULTS@#Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/β complex thalassemia, one was β-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term.@*CONCLUSION@#Preimplantation genetic diagnosis can be carried out by NGS technology in α/β complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.
Subject(s)
Female , Humans , Pregnancy , High-Throughput Nucleotide Sequencing , Mutation , Preimplantation Diagnosis , alpha-Thalassemia , beta-Globins/genetics , beta-Thalassemia/geneticsABSTRACT
@#【Objective】To investigate the value of medical exome sequencing in copy number variation detection in genetic diseases. 【Methods】 Here we tested two separated cases. There are no similar symptoms except intelligent disability between the cases. Fragile X syndrome，G-banding，chromosome microarray and medical exome sequencing were sequenced tested for the two cases and their parents. 【Results】We found the copy number variants in both of the patients from the two families，which distributed from 11.4 kb to 13.03 Mb in size. The copy number variants were all verified by other technologies. 【Conclusion】 medical exome sequencing is useful for the detection of copy number variation in genetic diseases，although the value still need more verification.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the value of hemoglobin A(HbA) for screening thalassemia.</p><p><b>METHODS</b>A total of 2 000 adults' peripheral blood samples from Guangdong Women and Children Hospital from June 2013 to January 2014 were collected. The hemoglobin A(HbA) level was analyzed by the full automatic capillary electrophoresis technique, and the genotypes of thalassemia were detected.</p><p><b>RESULTS</b>The optimal cutoff values of HbAfor screening silent α-thalassemia, α-thalassemia trait, intermedia α-thalassemia and β-thalassemia trait were 2.85%, 2.65%, 2.25% and 3.45%, respectively; the areas under receiver operator characteristic (ROC) curve were 0.709, 0.839, 0.979 and 0.997 respectively; the sensitivities were 0.481, 0.721, 0.953 and 0.994, and the specificities were 0.846, 0.837, 0.929 and 0.969 respectively.</p><p><b>CONCLUSION</b>The optimal cutoff values of HbAfor screening different type of thalassemia based on our laboratory data are established by using ROC curve. According to the area under ROC curve, a satisfactory accuracy for screening intermedia α-thalassemia and β-thalassemia trait can be achieved by detecting hemoglobin Alevel.</p>
ABSTRACT
<p><b>OBJECTIVE</b>To explore the best acupoints for the treatment of herpes zoster.</p><p><b>METHODS</b>Two hundred cases were randomized into an observation group and a control group, 100 cases in each one. In observation group, meridian-collateral electric information diagnosis and treatment instrument was used to detect meridian and collateral so as to find out the relevant "sick meridian open" for electric stimulation, bloodletting and cupping. In control group, Acyclovir was administered orally.</p><p><b>RESULTS</b>In observation group, it had been dectcted that "sick meridian open" were mostly localized in Ashi point (Extra), Zhangmen (LR 13), Daimai (GB 26), Qimen (LR 14), Dabao (SP 15), etc. The totally effective rate in observation group was 100.0% (100/100) that was superior to 60.0% (60/100) in control group (P < 0.000 1). Additionally, the time for pain relief, blister relief and scarring in observation group was shorter obviously than that in control group (P < 0.000 1). There was no case of post-herpetic neuralgia in observation group, but the incidence of it in control group was 26.0% (26/100).</p><p><b>CONCLUSION</b>Meridian-collateral diagnosis and treatment instrument detects "sick meridian open" for electric stimulation and bloodletting and cupping in the treatment of herpes zoster, which can effectively relieve pain and prevent from post-herpetic neuralgia promptly.</p>