雄激素受体基因第一外显子CAG重复序列长度多态性与痤疮的相关性

目的 探讨人雄激素受体基因第一外显子CAG重复序列长度多态性与痤疮发生之间的关系。方法 研究对象为中国东北地区238例痤疮患者和207例健康对照，抽取外周血后分离纯化出基因组DNA，采用微卫星扫描（STRs）方法分析CAG重复序列的多态性。结果 男性病例组和对照组的CAG重复均数分别为22.70 ± 3.09和23.48 ± 2.83，两组之间差异有统计学意义（P = 0.046）；将对照组中CAG重复次数的中位数23作为分割点分组比较，长/短CAG片段在男性病例和对照中的分布差异有统计学意义，携带有CAG短片段的男性较携带CAG长片段的男性患痤疮的风险性明显增加（OR值2.07；95%可信限为1.21 ～ 3.54）。女性病例组和对照组的CAG重复均数分别为23.41 ± 2.87和23.85 ± 0.21，两组之间差异无统计学意义（P = 0.115）；按中位数分组比较长/短CAG片段在女性病例和对照中的分布差异有统计学意义，携带有CAG短片段的女性患痤疮的风险性明显增加（P = 0.013，OR值2.05；95%可信限为1.18 ～ 3.56）。结论 雄激素受体基因第一外显子CAG的重复次数与中国东北地区痤疮的发生有关，CAG重复次数少的男性个体患痤疮的风险性增加，雄激素受体基因第一外显子CAG的重复次数可作为痤疮的遗传易感标志之一。     

男性雄激素性秃发患者雄激素受体基因和5α还原酶基因多态性研究

目的 探讨华东地区汉族男性雄激素性秃发与雄激素受体基因和5α还原酶基因多态性的关系.方法 研究对象为101例男性雄激素性秃发患者和104例健康对照,抽取外周血后分离纯化出基因组DNA,采用聚合酶链反应和限制性片段长度多态性方法研究雄激素受体基因1号外显子StuⅠ限制性片段长度多态性和Ⅰ型5α还原酶(SRD5A1)和Ⅱ型5α还原酶(SRD5A2)基因多态性,微卫星扫描分析1号外显子CAG和GGC重复序列的多态性.结果 雄激素受体基因1号外显子StuⅠ限制性片段长度多态性在汉族男性雄激素性秃发患者与健康对照之间差异无统计学意义(P>0.05),雄激素受体基因的CAG重复序列多态性分布在两组之间差异无统计学意义(P=0.130),GGC重复序列多态性分布在两组之间差异有统计学意义(P=0.004);短CAG/短GGC分别在病例与对照组中占25.53%和46.88%(P=0.002),长CAG/长GGC分别占42.55%和19.79%(P=0.001).未发现SRD5A1及SRD5A2等位基因和基因型出现的频率不同(P>0.05).结论 雄激素受体基因GGC重复序列以及CAG/GGC重复序列多态性与汉族男性雄激素性秃发有明显关系.而5α还原酶基因多态性与汉族男性雄激素性秃发无明显关系.     

皮脂腺及皮下脂肪疾病

雄激素受体基因CAG多态性与痤疮中医分型的相关性研究;妊娠期痤疮患雄激素和垂体激素水平研究;女性痤疮患卵泡期血清六项性激素水平的测定;寻常性痤疮局部药物治疗进展（综述）;自血疗法结合西药治疗寻常痤疮116例……[第一段]     

CYP17基因多态性与痤疮中医分型的相关性

目的探讨CYP17基因多态性与痤疮中医分型的相关性。方法提取肝郁气滞型、湿热内蕴型痤疮患者和正常对照者的血DNA标本。设计引物通过PCR技术扩增出包括CYP17基因多态位点的片段,用限制性内切酶Ms- pA1Ⅰ进行酶切,产物在2%琼脂糖凝胶上电泳,确定出CYP17基因的3种基因型(A1A1、A1A2、A2A2),并经测序证实。结果肝郁气滞型组基因型A1A2频率、湿热内蕴型组基因型A1A2频率间及分别与正常对照组基因型A1A2频率比较,差异无显著性意义(P>0.05);肝郁气滞型组基因型A2A2频率和正常对照组基因型A2A2频率比较,差异无显著性意义(P>0.05);湿热内蕴型组基因型A2A2频率分别与肝郁气滞型组基因型A2A2频率和正常对照组基因型A2A2频率比较,差异有显著性意义(P<0.05)。结论CYP17基因-34bp处T→C碱基的置换存在与痤疮湿热内蕴型有关。     

痤疮中医分型与性激素水平变化关系

目的探讨痤疮的中医辨证分型与血清性激素水平的相关性,并观察中医辨证论治后,其性激素水平的变化。方法将痤疮患者分为肝郁气滞型、肺胃蕴热型,检测其黄体生成素、卵泡刺激素、睾酮、雌二醇、催乳素、性激素结合球蛋白水平,分析中医分型与性激素水平的关系,两组证型患者经中药治疗2个月后,再观察睾酮、雌二醇的变化。结果两证型所检测的六种性激素中,男性的睾酮(8.09±3.20,11.32±7.41)、催乳素(15.68±11.67,12.97±5.11)、性激素结合球蛋白(517.36±327.43,408.35±107.08)差异有统计学意义(P均<0.05)。女性的睾酮(0.510±0.203,0.631±0.399)、催乳素(22.75±11.87,18.66±5.30)、性激素结合球蛋白(397.63±198.24,313.52±102.79)差异有统计学意义(P均<0.05)。两型痤疮患者其治疗后的睾酮、雌二醇比治疗前明显改变,差异有统计学意义(P均<0.05)。结论痤疮的中医分型与血清性激素水平有较明显的相关性,而中药对痤疮患者性激素水平具有调节作用。     

云南汉族女性痤疮与雄激素受体基因多态性的相关性研究

目的探讨人雄激素受体（AR）基因第一外显子CAG串联短重复序列（STR）多态性与汉族女性痤疮发生之间的关系。方法选取了86名女性患者作为研究对象，68名正常女性作为对照组，将研究对象血样提取基因组DNA，采用PCR-genescan技术研究CAGSTR的n值。结果痤疮组及对照组的CAG STRn值范围分别为12～30和12～28，经t检验分析AR基因CAG重复片段数在对照组与各痤疮组之间分布没有差异。结论AR基因与云南汉族女性痤疮发病无明显相关性。     

性激素水平与痤疮中医分型的关系研究

目的探讨性激素水平与痤疮中医分型的关系。方法采用放射免疫双抗法进行血清LH,FSH,E2,T,PRL水平的检测。结果女性肝郁气滞型痤疮患者血清性激素水平与女性湿热内蕴型痤疮患者血清性激素水平比较,LH差异无显著性(P>0.05);FSH,E2,T,PRL,LH/FSH差异均有显著性(P<0.01);男性肝郁气滞型痤疮患者血清性激素水平与男性湿热内蕴型痤疮患者血清性激素水平进行比较,血清T,PRL差异有显著性(P<0.05)。结论性激素水平与痤疮中医分型有关。PRL,LH/FSH是肝郁气滞型痤疮患者中医分型的微观物质基础,而T是湿热内蕴型痤疮患者中医分型的微观物质基础。     

雄激素受体CAG多态性与男性型脱发的关系

目的探讨雄激素受体第一外显子CAG三核苷酸重复序列与男性型脱发(MPB)的关系。方法收集MPB患者34例(顶秃3例,额秃31例)和正常男性38例,通过STR测定CAG重复数目。结果MPB患者CAG重复长度范围13.0~30.0,平均22.7。3例顶秃和31例额秃CAG平均值分别为22.0,23.8。对照组CAG重复长度范围15.0~30.0,平均23.3。不同组之间差异无显著性(P>0.05)。结论雄激素受体CAG三核苷酸重复序列可能不是男性型脱发的主要遗传致病因素,治疗时需综合考虑。     

应用微卫星对白念珠菌种内分型

目的:用rDNA以外的重复序列(微卫星)对白念珠菌进行种内分型。方法:选取临床分离株20株以及标准株1株,设计针对保守基因CDC3的引物进行PCR,PCR产物连接到载体,转化,然后测序和分型。结果:21株菌株依微卫星型别被分为5种基因型,依片段长度型别分为7型。2株临床分离株和1株标准株经转种10次以后基因型仍然保持稳定。结论:CDC3中的微卫星遗传稳定,可以作为基因分型标记。用该方法可以进行白念珠菌种内分型,将为开展白念珠菌病流行病学调查提供一个方法。     

云南汉族痤疮与CYP11α基因微卫星多态性相互关系的研究

目的研究雄激素相关基因CYP11α基因多态性与云南汉族痤疮发病危险性的关系,从分子遗传学角度探讨痤疮的发病机制。方法对206例云南汉族痤疮患者和200例健康对照者外周血的DNA样本采用PCR-genescan法检测CYP11α基因的tttta微卫星多态性位点,同时对两组患者的多态性位点基因型分布频率进行比较。结果男性重型痤疮中215-和215+基因型频率(59%,41%),与男性对照组(40.1%,59.1%)相比差异有显著性(P<0.05),但在女性痤疮组以及男性轻型痤疮组中这两种基因型频率分布与各自对照组相比未发现差异(P>0.05)。结论CYP11α基因的tttta微卫星重复多态性与云南汉族男性重型痤疮相关,CYP11α基因215-基因型可能是男性重型痤疮的遗传易感因素之一。     

Combination of short CAG and GGN repeats in the androgen receptor gene is associated with acne risk in North East China

Background Acne vulgaris is one of the most common skin disorders, and androgen is known to play a key role in the development of acne. However, the exact genetic mechanism by which androgen receptor (AR) gene affects acne development is still unclear. Objective Our study aimed to investigate whether CAG and GGN polymorphism of the AR gene are associated with acne risk. Patients and methods Two hundred thirty‐eight patients and 207 controls were included in the study. The repeat lengths of the AR gene were determined by GeneScan analysis. Results Men with CAG < 23 and women with CAG < 24 had significant risk compared to those men with CAG ≥ 23 [odds ratio (OR), 2.07; 95% confidence interval (95% CI), 1.21–3.54] and women with CAG ≥ 24 (OR, 2.05; 95% CI, 1.18–3.56). In males, GGN repeats, considered independently of the CAG repeat, have no significant effect on the acne risk; however, when combined with CAG repeats, the acne patients exhibited significantly higher frequency of the haplotypes CAG < 23/GGN ≤ 23 (OR, 3.33; 95% CI, 1.10–10.07; P < 0.05) compared with the controls. Conclusion Our results of this study strongly indicated that a shorter CAG repeat length and specific haplotypes of AR attributed to the risk of acne development and thus could serve as a susceptibility marker.     

Polymorphism of the androgen receptor gene is associated with male pattern baldness

The common heritable loss of scalp hair known as male pattern baldness or androgenetic alopecia affects up to 80% of males by age 80. A balding scalp is characterized by high levels of the potent androgen dihydrotestosterone and increased expression of the androgen receptor gene. To determine if the androgen receptor gene is associated with male pattern baldness, we compared allele frequencies of the androgen receptor gene polymorphisms (StuI restriction fragment length polymorphism and two triplet repeat polymorphisms) in cases with cosmetically significant baldness (54 young and 392 older men) and controls (107 older men) with no indication of baldness. The androgen receptor gene StuI restriction site was found in all but one (98.1%) of the 54 young bald men (p = 0.0005) and in 92.3% of older balding men (p = 0.000004) but in only 76.6% of nonbald men. The combination of shorter CAG and GGC triplet repeat lengths was also more prevalent in bald men (p = 0.03). The ubiquity of the androgen receptor gene StuI restriction site, and higher incidence of shorter triplet repeat haplotypes in bald men suggests that these markers are very close to a functional variant that is a necessary component of the polygenic determination of male pattern baldness. Functional mutation in or near the androgen receptor gene may explain the reported high levels of expression of this gene in the balding scalp.     

痤疮相关基因多态性的研究进展

痤疮是一种常见的毛囊皮脂腺慢性炎症性疾病,临床表现多种多样.雄激素过多和炎症反应在痤疮的发病中具有重要作用.该病的病因尚不明了,但目前多项研究表明,遗传因素在痤疮发病中也起到一定作用,增加痤疮易感性.已发现雄激素受体基因、CYP11α基因、CYP17A1基因、TNFα基因与痤疮的相关性.概述雄激素相关基因和炎症介导相关基因的多态性与痤疮相关性的研究进展.     

Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients

Female pattern hair loss (FPHL) is frequently referred to as female androgenetic alopecia (FAGA). However, the role of androgen in this type of hair loss remains uncertain. We previously reported greater therapeutic efficacy of finasteride in Japanese male androgenetic alopecia (MAGA) patients in cases where the CAG repeats of the androgen receptor (AR) gene were short. To examine the correlation between CAG repeat numbers and the therapeutic efficacy of finasteride in FPHL patients, the efficacy of finasteride (1 mg/day) was evaluated macroscopically. Because women have two X-chromosomes, the shorter and longer CAG repeat numbers were analyzed in 37 Japanese FPHL patients, then the correlation of these factors was statistically analyzed by anova. No statistical significance in terms of the differences in CAG repeat numbers was detected among the four groups classified on the basis of the efficacy of finasteride. From these results, it may be concluded that the efficacy of this medicine in each FPHL patient cannot be predicted by the CAG repeat numbers in the AR gene.