Sawaya M E, Shalita A R
ARATEC: Alopecia Research and Associated Technologies, and University of Florida, Departments of Medicine and Dermatology, Gainesville, Florida, USA.
J Cutan Med Surg. 1998 Jul;3(1):9-15. doi: 10.1177/120347549800300103.
The androgen receptor (AR) is a structurally conserved member of the nuclear receptor superfamily. The amino-terminal domain is required for transcriptional activation and contains a region of polyglutamine encoded by CAG trinucleotide repeats. In humans, the number of CAG repeats is polymorphic. Expansion of CAG repeats in the AR has clinical implications for human disease.
Androgens influence androgenetic alopecia (AGA), hirsutism, and acne; the polymorphisms in CAG repeat length may affect the clinical course of patients with these cutaneous disorders. The purpose of this study is to test for an association between these disorders and CAG repeat length.
We analyzed normal lymphocyte genomic DNA from a total of 48 men and 60 women. The CAG repeat region of the AR was amplified by polymerase drain reaction (PCR) and the products were sized on polyacrylamide gels.
In normal men and women controls, a range of 12 to 29 trinucleotide repeats was found, with men having 22 +/- 4 (M 6 SD), women 21 +/- 3. Men with AGA had 19 +/- 3, whereas women with AGA had 17 +/- 3. Men with acne had 21 +/- 3, whereas women had 20+/- 3; men with AGA and acne had 18 +/- 4; and women with hirsutism had 16 +/- 3. Women with a combination of at least two disorders also had 16 +/- 3 trinucleotide repeats.
associated with the development of androgen-mediated skin disorders in men and women. These data suggest that CAG-repeat length in AR may affect androgen mediated gene expression in hair follicles and sebaceous glands in men and women with these androgenic skin disorders.
雄激素受体（AR）是核受体超家族中结构保守的成员。其氨基末端结构域对于转录激活是必需的，并且包含由CAG三核苷酸重复序列编码的多聚谷氨酰胺区域。在人类中，CAG重复序列的数量是多态性的。AR中CAG重复序列的扩增对人类疾病具有临床意义。
雄激素影响雄激素性脱发（AGA）、多毛症和痤疮；CAG重复长度的多态性可能影响这些皮肤疾病患者的临床病程。本研究的目的是检测这些疾病与CAG重复长度之间的关联。
我们分析了总共48名男性和60名女性的正常淋巴细胞基因组DNA。通过聚合酶链反应（PCR）扩增AR的CAG重复区域，并在聚丙烯酰胺凝胶上对产物进行大小测定。
在正常男性和女性对照组中，发现三核苷酸重复序列的范围为12至29，男性为22±4（均值±标准差），女性为21±3。患有AGA的男性为19±3，而患有AGA的女性为17±3。患有痤疮的男性为21±3，而女性为20±3；患有AGA和痤疮的男性为18±4；患有多毛症的女性为16±3。患有至少两种疾病的女性三核苷酸重复序列也为16±3。
与男性和女性雄激素介导的皮肤疾病的发生有关。这些数据表明，AR中的CAG重复长度可能影响患有这些雄激素性皮肤疾病的男性和女性毛囊和皮脂腺中雄激素介导的基因表达。
