Congenital mixed malignant germ cell tumor involving cerebrum and orbit

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 台中附設醫院 > 期刊論文 > Item 310903500/30101

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题名:	Congenital mixed malignant germ cell tumor involving cerebrum and orbit
作者:	Lee, JC;Jung, SM;Chao, AS;Hsueh, C
贡献者:	附設醫院婦產部;Chang Gung Childrens Hosp, Dept Pathol, Tao Yuan, Taiwan;China Med Coll Hosp, Dept Obstet & Gynecol, Taichung, Taiwan;Chang Gung Mem Hosp, Dept Obstet & Gynecol, Tao Yuan, Taiwan;Chang Gung Mem Hosp, Dept Pathol, Tao Yuan, Taiwan
日期:	2003
上传时间:	2010-09-24 14:49:15 (UTC+8)
出版者:	WALTER DE GRUYTER & CO
摘要:	More than 90% of the cases of congenital adrenal hyperplasia are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed apparent gene conversion, from the neighboring CYP21P pseudogene. Among them, mutation of the aberrant splicing donor site of IVS2-12A/C>G at nucleotide (nt) 655 is believed to be a result derived from this mechanism and is the most prevalent case among all ethnic groups. However, mutation of 707-714delGAGACTAC rarely exists alone, although this locus is a distance of 53 nt away from IVS2-12A/C>G. From the molecular characterization of the mutation of IVS2-12A/C>G combined with 707-714del-GAGACTAC in patients with congenital adrenal hyperplasia, we found that it appeared to be in a 3.2- rather than a 3.7-kb fragment generated by Taq I digestion in a PCR product of the CYP21 gene. Interestingly, the 5' end region of such a CYP21 haplotype had CYP21P-specific sequences. Our results indicate that the coexistence of these two mutations is caused by deletion of the CYP21P, XA, RP2, and C4B genes and intergenic recombination in the C4-CYP21 repeat module. Surprisingly, this kind of the haplotype of the mutated CYP21 gene has not been reported as a gene deletion.
關聯:	JOURNAL OF PERINATAL MEDICINE 31(3):261-265
显示于类别:	[台中附設醫院] 期刊論文

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