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Objective:To explore the accuracy of array comparative genomic hybridization(aCGH) in the unexpected detection of Duchenne muscular dystrophy ( DMD) gene duplication/deletion in prenatal diagnosis. Methods:A retrospective analysis was performed on 31 cases with DMD gene duplication/deletion detected by aCGH among 5 025 prenatal diagnosis samples without family history of DMD in Henan Provincial People's Hospital from July 2018 to December 2019. The multiplex ligation-dependent probe amplification (MLPA) method was used to verify the above results. The American College of Medical Genetics and Genomics (ACMG) guideline was referred for pathogenicity analysis of the detected duplicates/deletions. Descriptive analysis was adopted in analysis. Results:The total unexpected DMD gene duplication/deletion rate was 0.62% (31/5 025), among which 25 cases were with microduplication/microdeletion ≤ 200 kb and six were >200 kb; there were 24 cases of deletion, seven cases of duplication; exon or intron duplication/deletion were accounted for 19 and 12 cases, respectively. According to the five classification standards of ACMG guideline, there were 17 cases with pathogenic variants and 14 cases with uncertain pathogenicity/likely benign variants. Of the 19 with exon mutations, 17 cases were DMD intragenic variants, and two cases involved variants in and outside DMD gene, which were verified by MLPA whose results were all positive. Conclusions:The duplication/deletion of exon region of DMD gene detected by aCGH technique is accurate and reliable, which plays an important role in the diagnosis of DMD. For these cases involved both internal and external regions of DMD gene, aCGH can identify the upstream and downstream breaking points of DMD gene, thus providing the basis for ACMG grading.
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OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with mental retardation.@*METHODS@#G-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.@*RESULTS@#The patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.@*CONCLUSION@#The duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.
Subject(s)
Adult , Female , Humans , Male , Chromosome Banding , Genetic Testing , Karyotyping , Pedigree , Trisomy/geneticsABSTRACT
Objective To conduct a survey on the prevalence of active pulmonary tuberculosis among 65 year olds or above. Study subjects would include those with characteristics of TB suspicious symptoms,diabetes and close contacts. Methods Purpose-sampling method was applied to choose 3 counties in Shandong province as the study sites,relying on the local basic public health service,for those elderly under 65 years old or above. The study team would introduce the process and contents of this study to the subjects followed by chest X-ray and sputum smears on those registered tuberculosis suspects,patients with diabetes,TB close contacts in the past 2 years,from January to September,2013. Results 82 active pulmonary TB cases were identified among 9 041 cases who received the examination,with a crude prevalence rate as 9.1‰. From patients having both suspicious TB and diabetic symptoms,patients with diabetes or having suspicious symptoms of TB,the prevalence rates of active TB were 115‰,3.4‰,0.9‰respectively. No active pulmonary TB case was found in the TB close contacts,patients with diabetes,or those people with suspicious TB symptoms. TB prevalence rates among all the above mentioned groups were significantly different(χ2=697.478, P=0.000). Prevalence rate of active pulmonary TB with diabetes was 18 times(RR=17.951)higher than those non-diabetic patients,and 2 times higher than those with suspicious symptoms (RR=3.860). Results from single factor analysis showed that diabetes were closely related to the prevalence of pulmonary tuberculosis(χ2=46.637,P=0.000),the longer duration of diabetes and the higher risk of tuberculosis (RR>1). Conclusion Our data showed that active pulmonary TB prevalence was high in elderly diabetes patients which suggesting that‘Key crowd screening program’should be introduced into case-finding strategy on TB,with special focus on TB patients with diabetes or those people having suspicious symptoms of TB.
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Objective To conduct a survey on the prevalence of active pulmonary tuberculosis among 65 year olds or above. Study subjects would include those with characteristics of TB suspicious symptoms,diabetes and close contacts. Methods Purpose-sampling method was applied to choose 3 counties in Shandong province as the study sites,relying on the local basic public health service,for those elderly under 65 years old or above. The study team would introduce the process and contents of this study to the subjects followed by chest X-ray and sputum smears on those registered tuberculosis suspects,patients with diabetes,TB close contacts in the past 2 years,from January to September,2013. Results 82 active pulmonary TB cases were identified among 9 041 cases who received the examination,with a crude prevalence rate as 9.1‰. From patients having both suspicious TB and diabetic symptoms,patients with diabetes or having suspicious symptoms of TB,the prevalence rates of active TB were 115‰,3.4‰,0.9‰respectively. No active pulmonary TB case was found in the TB close contacts,patients with diabetes,or those people with suspicious TB symptoms. TB prevalence rates among all the above mentioned groups were significantly different(χ2=697.478, P=0.000). Prevalence rate of active pulmonary TB with diabetes was 18 times(RR=17.951)higher than those non-diabetic patients,and 2 times higher than those with suspicious symptoms (RR=3.860). Results from single factor analysis showed that diabetes were closely related to the prevalence of pulmonary tuberculosis(χ2=46.637,P=0.000),the longer duration of diabetes and the higher risk of tuberculosis (RR>1). Conclusion Our data showed that active pulmonary TB prevalence was high in elderly diabetes patients which suggesting that‘Key crowd screening program’should be introduced into case-finding strategy on TB,with special focus on TB patients with diabetes or those people having suspicious symptoms of TB.
ABSTRACT
<p><b>OBJECTIVE</b>To conduct a survey on the prevalence of active pulmonary tuberculosis among 65 year olds or above. Study subjects would include those with characteristics of TB suspicious symptoms, diabetes and close contacts.</p><p><b>METHODS</b>Purpose-sampling method was applied to choose 3 counties in Shandong province as the study sites, relying on the local basic public health service, for those elderly under 65 years old or above. The study team would introduce the process and contents of this study to the subjects followed by chest X-ray and sputum smears on those registered tuberculosis suspects, patients with diabetes, TB close contacts in the past 2 years, from January to September, 2013.</p><p><b>RESULTS</b>82 active pulmonary TB cases were identified among 9 041 cases who received the examination, with a crude prevalence rate as 9.1‰. From patients having both suspicious TB and diabetic symptoms, patients with diabetes or having suspicious symptoms of TB, the prevalence rates of active TB were 115‰, 3.4‰, 0.9‰ respectively. No active pulmonary TB case was found in the TB close contacts, patients with diabetes, or those people with suspicious TB symptoms. TB prevalence rates among all the above mentioned groups were significantly different (χ(2) = 697.478, P = 0.000). Prevalence rate of active pulmonary TB with diabetes was 18 times (RR = 17.951) higher than those non-diabetic patients, and 2 times higher than those with suspicious symptoms (RR = 3.860). Results from single factor analysis showed that diabetes were closely related to the prevalence of pulmonary tuberculosis(χ(2) = 46.637, P = 0.000), the longer duration of diabetes and the higher risk of tuberculosis(RR > 1).</p><p><b>CONCLUSION</b>Our data showed that active pulmonary TB prevalence was high in elderly diabetes patients which suggesting that 'Key crowd screening program' should be introduced into case-finding strategy on TB, with special focus on TB patients with diabetes or those people having suspicious symptoms of TB.</p>