PCR法诊断性联隐性鱼鳞病的基因缺失及基因携带者

Abstract

Abstract: Steroid suIfatase (STS) gene deletion is the major cause for recessive X-finked lchthyosis (RXLI).Carriers of the disease have half normal gene dosage of STS.We detected 19 cases of RXLI and 11 cases of autosomal dominant ichthyosis and found 16 out of 19 RXLI (84%) have STS gene deletions by polymerise chain reaction (PCR) whi比is consistent with the result of Southern hybridixation.On the basis of it,we detected 4 families of PXLI by gene dosage analysis and found two mothers are gene carriers.The experiment has fundamental aignificauce in prenatal diagnosis of RXLI.

Key words: Ichthyoxis, Polymerase chain reaction

HU Zhi-Lan, FANG Li. Screemng of Steroid Sulfatase Gene Deletions by Polymerase and Chain Reaction and Detection of the Gene Carriers in Recessive X-Linked Ichthyosis[J].Chinese Journal of Dermatology, 1993, 26(5): 282-284.

[1]	. Clinical application of colony PCR in rapid detection of pathogenic fungi causing tinea capitis [J]. Chinese Journal of Dermatology, 2018, 51(6): 434-436.
[2]	. Application of nested real?time PCR in detecting Treponema palladium DNA in various clinical samples from patients preliminarily diagnosed as syphilis [J]. Chinese Journal of Dermatology, 2017, 50(5): 346-350.
[3]	. Detection of Trichomonas vaginalis in male patients with urethritis by nested PCR [J]. Chinese Journal of Dermatology, 2014, 47(12): 849-851.
[4]	. Preferential expressions of peripheral blood T cell receptor beta chain variable region subfamilies in patients with psoriasis vulgaris [J]. Chinese Journal of Dermatology, 2011, 44(8): 581-584.
[5]	. Expressions of Toll like receptor 3 （TLR3） and TLR9 in lesions of condyloma acuminatum with different prognosis [J]. Chinese Journal of Dermatology, 2011, 44(5): 354-356.
[6]	. Detection of common Candida spp. by denaturing high-performance liquid chromatography [J]. Chinese Journal of Dermatology, 2008, 41(8): 554-.
[7]	. Detection of human papillomavirus in psoriatic lesions and scrapings [J]. Chinese Journal of Dermatology, 2008, 41(10): 695-.
[8]	XI-ANG Hua-guo, XIONG Li-kuan, ZHOU Hua, SU Fang-ming, TU Zhi-guang. PCR-reverse line blot hybridization assay for the detection of common species of Canclida [J]. Chinese Journal of Dermatology, 2007, 40(8): 485-488.
[9]	LIU Jun, SHEN Yong-nian, LÜ Gui-xia, CHEN Wei, LIU Wei-da. Detection of deep-seated pathogenic fungi by polymerase chain reaction [J]. Chinese Journal of Dermatology, 2006, 39(8): 439-441.
[10]	WANG Hong-sheng, LI Xiao-jie, WU Qin-xue, CUI Pan-gen, LIU Xun-quan. Study of PCR for direct detection and identification of mycobacteria in skin specimens [J]. Chinese Journal of Dermatology, 2006, 39(10): 593-595.
[11]	TIAN Yan-li, LI Chun-ying, WANG Gang, GAO Tian-wen, LU Tao, LI Miao. In-cell assembly of single-chain Fv from peripheral blood lymphocytes from vitiligo patients [J]. Chinese Journal of Dermatology, 2006, 39(1): 38-40.
[12]	LIU Jun, LIU Wei-da. Detection of Deep Pathogenic Fungi by PCR [J]. Chinese Journal of Dermatology, 2005, 38(8): 503-505.
[13]	WANG Hong-sheng, LI Xiao-jie, WU Qin-xue, CUI Pan-gen, LIU Xun-quan. Methods for Rapid Detection of Four Mycobacterial Species [J]. Chinese Journal of Dermatology, 2005, 38(5): 285-287.
[14]	JIANG Ming-jun, WANG Shu-qi, GONG Xiang-dong, YU Yan-hua, CHEN Qiang, GAO Sheng, YIN Yue-ping, HAN Guo-zhu, SUN Jian-fang. Genotyping of Human Papillomavirus in Condyloma Acuminata [J]. Chinese Journal of Dermatology, 2005, 38(5): 262-264.
[15]	LI Xiao-fang, CHEN Hui, CUI Fan, CHEN Wei, LÜ Gui-xia, SHEN Yong-nian, LIU Wei-da. Direct Detection of Pathogenic Fungi in Superficial Fungal Infections Based on Polymerase Chain Reaction [J]. Chinese Journal of Dermatology, 2005, 38(12): 722-724.

Screemng of Steroid Sulfatase Gene Deletions by Polymerase and Chain Reaction and Detection of the Gene Carriers in Recessive X-Linked Ichthyosis

PDF (PC)

Like

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Metrics

Comments

Recommended 0