Wessagowit Vesarat
Molecular Genetics Laboratory, The Institute of Dermatology, Bangkok, Thailand.
Methods Mol Biol. 2013;961:33-96. doi: 10.1007/978-1-62703-227-8_3.
The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism. Molecular methods of two genodermatoses are explained in detail, i.e. genodermatoses with skin fragility and neurofibromatosis type 1.
分子遗传学的进展帮助临床医生对大量且仍在增加的遗传性皮肤病，证实或排除疑似诊断。这使得针对许多遗传性皮肤病能够进行精确的遗传咨询、产前诊断和植入前遗传单倍型分析。在表型模拟、迟发性和不完全外显、单亲二体、线粒体遗传和色素镶嵌等情况下也很有帮助。详细解释了两种遗传性皮肤病的分子方法，即伴有皮肤脆性的遗传性皮肤病和1型神经纤维瘤病。
