目的 本研究旨在为遗传性骨性Ⅲ类错颌的风险基因突变及复杂遗传背景提供更多依据,进而可以为再生风险的产前诊断提供参考.方法 对1个家族性骨性Ⅲ类错颌家系中患者进行全外显子组测序,设置合理条件对变异的注释进行筛选,并筛选下颌前突或骨性Ⅲ类错颌相关基因突变.对疾病相关基因突变进行进一步的生物信息学分析.Sanger测序验证患者的疾病相关基因突变并检测核心家庭成员的基因.结果 在患者Ⅲ3、Ⅳ2的所有变异中,采用3个条件(突变有害性为高级,且突变质量值为高度或中度,且在HGMD数据库中突变涉及下颌前突)筛选后,仅发现ADAMTSL1基因的c.G1696A错义突变.这个基因突变位点是本研究首次报道的.该新位点(p.E566K)位于ADAMTSL1蛋白的关键结构功能域.多数软件预测该基因新位点突变为有害.该基因突变为常染色体显性遗传,但外显率不完全.结论 本研究建立了从全外显子组测序结果中筛选下颌前突或骨性Ⅲ类错颌相关基因的合理、可行方法,具有实际推广应用价值.本研究报道了与骨性Ⅲ类错颌相关的ADAMTSL1基因的新位点错义突变.本研究结果可以为遗传性骨性Ⅲ类错颌的风险基因突变提供更多依据,进而可以为家系中再生风险的产前诊断提供参考.
Objective To explore the differences and correlations of platelet, leukocyte and erythrocyte levels between acute respiratory mycoplasma infection and parainfluenza virus infection in children. Methods The clinical data of 287children with infectious diseases admitted to our hospital from February 2018 to February 2019 were retrospectively analyzed,and they were divided into mycoplasma infection group（136 cases） and parainfluenza virus infection group（151 cases） according to their different infection types, and another 100 children who came to our hospital for physical examination during the same period were selected as the healthy control group. The differences in platelet（PLT）, white blood cell（WBC）, and red blood cell（RBC） levels of children in different groups were compared. Pearson correlation was used to analyze the relationship between the levels of PLT, WBC, and RBC with mycoplasma infection and parainfluenza virus infection. The receiver operating characteristic curve was used to analyze the diagnostic value of PLT, WBC, and RBC levels in differentiating mycoplasma infection and parainfluenza virus infection. Results The levels of PLT and WBC in mycoplasma infection group were significantly higher than those in parainfluenza virus infection group and healthy control group, while the levels of RBC were lower than those in parainfluenza virus infection group and healthy control group. PLT in parainfluenza virus infection group was higher than that in healthy control group, and RBC level was lower than that in healthy control group, both P＜0.05.Mycoplasma infection was positively correlated with PLT and WBC, and negatively correlated with RBC, P＜0.05. Parainfluenza virus infection was positively correlated with PLT and negatively correlated with RBC, P＜0.05. The sensitivity of PLT,WBC, RBC and combined factors to diagnose mycoplasma infection and parainfluenza virus infection was 69.1%, 69.1%,89.7% and 95.6% respectively, P＜0.05. Conclusion There were significant differences in PLT, WBC and RBC levels between mycoplasma infection and parainfluenza virus infection in children. Combining PLT, WBC and RBC indicators was helpful to distinguish mycoplasma infection from parainfluenza virus infection.
Objective To perform preimplantation genetic testing（PGT） for X-linked chronic granulomatosis using multiple displacement amplification（MDA） combined with haplotype analysis and pathogenic gene detection. Methods Sixteen short tandem repeat markers flanking both sides of CYBB gene were applied to construct haplotype analysis. Whole genome amplification was based on multiple displacement amplification and its product was further submitted to polymerase chain reaction and capillary electrophoresis to detect polymorphic STR sites and CYBB gene. The sex was diagnosed by the Amel locus. Results Two cycles of PGT were performed for a family. The pedigree analysis found seven polymorphic STR loci informative. A total of 16 embryos were diagnosed, of which 8 were genetically normal, 1 was carrier and 7 were abnormal. The diagnostic efficiency was 100%. The MDA success rate was 99.3%（143/144） and the allele drop-out rate was 14.0%（6/43）. A total of six transplantable blastocysts and three embryo transfer cycles were carried out for the patient, resulting in a single pregnancy and healthy baby boy at full term. Conclusion Multiple displacement amplification combined with specific amplification of pathogenic gene and haplotype analysis are effective and efficient in preimplantation genetic testing for X-linked chronic granulomatosis.
Objective To explore the relationship between the serum levels of Kirsten rat arcomaviral oncogene homolog（KRAS） and silent information regulator 1（SIRT1） in patients with endometriosis and the progress of the disease and the diagnostic value of endometriosis. Methods From June 2020 to June 2022, 90 patients with endometriosis who were treated in Yan’an People’s Hospital were selected as the observation group. According to the severity of dysmenorrhea, they were grouped into 32 mild cases, 38 moderate cases, and 20 severe cases. According to the staging standard of endometriosis,they were grouped into 36 cases of stage Ⅰ–Ⅱ, 30 cases of stage Ⅲ, and 24 cases of stage Ⅳ. Another 88 healthy women of childbearing age were regarded as the control group. Serum KRAS, SIRT1, carbohydrate antigen 125（CA125） and anti-endometrial antibody（EMAb） were compared in each group. Pearson correlation was used to analyze the relationship between KRAS and SIRT1, as well as their relationship with CA125 and EMAb. ROC curve was used to evaluate the diagnostic value of serum KRAS and SIRT1 for endometriosis. Multivariate Logistic regression was used to analyze the influencing factors of endometriosis. Results The serum levels of KRAS, SIRT1, CA125 and EMAb in the observation group were higher than those in the control group（P＜0.05）. The serum levels of KRAS, SIRT1, CA125 and EMAb were increased successively in patients with mild, moderate and severe dysmenorrhea（P＜0.05）. The serum levels of KRAS, SIRT1, CA125 and EMAb in patients with r-AFS stage Ⅰ–Ⅱ, Ⅲand Ⅳ were increased gradually（P＜0.05）. Serum KRAS and SIRT1 levels in observation group were positively correlated（P＜0.05）, and both were positively correlated with CA125 and EMAb levels（P＜0.05）.Multivariate Logistic regression analysis showed that high levels of KRAS, SIRT1, CA125, and EMAb were risk factors for endometriosis（P＜0.05）. The area under the curve of combined serum KRAS and SIRT1 in diagnosing endometriosis was significantly higher than that of single index（P＜0.05）. Conclusion The serum levels of KRAS and SIRT1 in patients with endometriosis are up-regulated, and the two are closely related to the disease progression of the patients. The combination of the two has a high diagnostic value for endometriosis.
目的 对一个生育过脊髓性肌萎缩症患儿的家系进行产前诊断,同时对三种实验室检测技术进行方法学的比较.方法 应用荧光定量PCR、荧光PCR-毛细管电泳法及MLPA对家系外周血样本及绒毛组织、羊水组织进行了检测.同时进行了亲缘鉴定以排除母源污染.结果 第一胎患儿为SMN1基因7、8号外显子纯合缺失合并SMN2基因的3拷贝重复,患儿父亲为SMN1基因第7、8号外显子的杂合缺失携带者合并SMN2基因的3拷贝重复,患儿母亲为SMN1基因第7、8号外显子的杂合缺失携带者,SMN2基因2拷贝.本次妊娠胎儿为SMN1基因第7、8号外显子杂合缺失及SMN2基因3拷贝重复.结论 经检测胎儿仅为SMN1基因杂合缺失的携带者,可继续正常妊娠.同时,荧光PCR-毛细管电泳法和MLPA可同时对SMN1和SMN2基因拷贝数进行检测,检测较为全面,但荧光定量PCR检测操作方便,检测周期短,适合大样本人群的普筛.
