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21.
22.
Vincent Laville Sigrid Le Clerc Khaled Ezzedine Randa Jdid Lieng Taing Toufik Labib Cdric Coulonges Damien Ulveling Pilar Galan Christiane Guinot Leopold Fezeu Frdrique Morizot Julie Latreille Denis Malvy Erwin Tschachler Jean‐Franois Zagury 《Experimental dermatology》2019,28(8):892-898
Sagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 × 10‐10) and rs4746957 (P = 1.06 × 10‐8), were significantly associated with eyelid sagging severity. The rs16927253‐T and rs4746957‐A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity. 相似文献
23.
Background
Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.Objective
To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency.Methods
We used targeted next-generation sequencing and quantitative polymerase chain reaction (qPCR) to reveal DDC mutations in these children.Results
Two DDC gene mutations were found: one missense mutation, c.1040G?>?A (p.Arg347Gln), is a reported mutation derived from the mother; the other mutation, a whole-exon 11 and 12 deletion, is a novel mutation derived from the father. The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. The siblings both died at 1?year and 10?months due to asphyxia and pneumonia during gaze and hypertonia episodes.Conclusion
This study identified a novel DDC gene deletion mutation in two siblings with AADC deficiency disease in the Chinese mainland population. 相似文献24.
目的分析一腓骨肌萎缩症家系的临床表现及不同基因检测方法的特点。方法收集一CMT家系8名成员临床资料,并应用等位基因特异性PCR-双酶切方法及多重连接依赖的探针扩增技术(MLPA)检测PMP22基因突变情况,同时选择60名性别、年龄无明显差异的健康人做为对照组。结果该家系中患病者以行走不稳、跨阈步态,伴有弓形足为主要临床表现。该家系中5名成员经等位基因特异性PCR-双酶切及MLPA方法均检测出PMP22基因重复序列,其中出现临床症状的有4名(Ⅱ3、Ⅱ9、Ⅱ11、Ⅲ7),未出现临床症状但基因检测结果示PMP22基因重复序列的为携带者有1名(Ⅲ5),家系中余3名成员及对照组60名均未见重复序列。结论基因检测在明确CMT诊断中起重要作用,且MLPA法筛查基因时操作更简便、灵敏度更高、特异性更好。 相似文献
25.
Nathan Scudder James Robertson Sally F. Kelty Simon J. Walsh Dennis McNevin 《The Australian journal of forensic sciences》2020,52(2):235-241
ABSTRACTForensic DNA analysis is dependent on comparing the known and the unknown. Expand the number of known profiles, and the likelihood of a successful match increases. Forensic use of DNA is moving towards comparing samples of unknown origin with publicly available genetic data, such as the records held by genetic genealogy providers. Use of forensic genetic genealogy has yielded a number of recent high-profile successes but has raised ethical and privacy concerns. Navigating family trees is complex, even more so when combined with a comparison of genetic relationships. This intelligence-gathering process has led to occasional false leads, and its use also risks a public backlash, similar to concerns over Cambridge Analytica. A cautious approach to use of this technique is therefore warranted. 相似文献
26.
27.
Marcondes C Fran?a Maria E Calcagnotto Jaderson C da Costa Iscia Lopes-Cendes 《Movement disorders》2006,21(7):1051-1053
Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members. 相似文献
28.
MPO和NAT2基因多态性与成人急性白血病易感性 总被引:2,自引:0,他引:2
目的研究髓过氧化物酶(MPO)和N-乙酰基转移酶2(NAT2)基因多态性与成人急性白血病易感性的关系.方法用1∶1配对病例-对照研究方法,收集成人急性白血病患者和对照各139例,应用聚合酶链-内切酶片段(PCR-RFLP)方法分析病例组和对照组MPO和NAT2的基因多态性,比较不同基因型与成人急性白血病易感性.结果 MPO-463A等位基因分布频率病例组低于对照组,MPO(G-463A)各基因型在病例组与对照组中的分布差异有统计学意义(χ^2=7.026,P〈0.05,OR=0.505,95%CI=0.325~0.847).NAT2乙酰化表型频率在病例组与对照组的分布差异无统计学意义(χ^2=2.260,P〉0.05);但NAT2*5 481T等位基因和NAT2*6 590A等位基因分布频率病例组高于对照组(P〈0.05).结论 MPO与成人急性白血病易感性相关,携带MPO(G-463A)突变基因型(GA/AA)个体可降低白血病的发病风险;NAT2乙酰化表型可能与白血病的易感性无关,但NAT2*5(C481T)、NAT2*6(G590A)单核苷酸突变频率病例组明显高于对照组. 相似文献
29.
PINK1 mutations in sporadic early-onset Parkinson's disease. 总被引:5,自引:0,他引:5
Eng-King Tan Kenneth Yew Eva Chua K Puvan Hui Shen Esther Lee Kim-Yoong Puong Yi Zhao Ratnagopal Pavanni Meng-Cheong Wong Dominic Jamora Deidre de Silva Kyaw-Thu Moe Fung-Peng Woon Yih Yuen Louis Tan 《Movement disorders》2006,21(6):789-793
Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. 相似文献
30.
BARI NUHOLU ALI AYYILDIZ VECIHI FIDAN ÖZDEN CEBECI UUR KOAR CANKON GERMIYANOLU 《International journal of urology》2006,13(2):109-110
OBJECTIVE: Nocturnal enuresis is a common pediatric problem, the etiology of which is unclear. In recent years, various studies have been published stating that children with nocturnal enuresis exhibit growth and skeletal maturation retardation. METHODS: In this cross-sectional study, we included 27 patients (16 boys, 11 girls) between the ages of 6 and 14 years who had presented with primary nocturnal enuresis (PNE) complaints. We included in the evaluation 19 healthy subjects (12 boys, 7 girls), who were the siblings of the children with PNE, as the control group. RESULTS: The patients in both groups were similar in chronological age, bone age, height and weight, with no significant difference between groups (P>0.05). CONCLUSION: The two groups in our study consisted of the same genetic background. Thus, our results were found to be different from the previous studies. We have concluded that there is no direct relationship between enuresis nocturnal and skeletal maturation. 相似文献