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目的 :报告 1例四配子异源嵌合体导致的真两性畸形并讨论其发病机制。 方法 :对 1例外生殖器模糊的患者外周血的淋巴细胞、经培养的皮肤成纤维细胞、两种不同性腺组织的成纤维细胞进行染色体核型分析 ,同时用X和Y染色体探针进行双色荧光原位杂交 (FISH) ;对患者红细胞血型、人类白细胞抗原 (HLA)和 77个短重复序列 (STR)微卫星标记进行检测 ;对患者性腺的 2种不同组织进行组织病理学检查 ;同时对患者的父母进行红细胞血型、HLA和STR检测。 结果 :患者外周血淋巴细胞、皮肤成纤维细胞、呈白色和黄色性腺组织的成纤维细胞染色体核型均为 4 6 ,XX/ 4 6 ,XY ;FISH检测所有细胞都显示了XX或XY的杂交信号。 4 6 ,XY的核型在外周血淋巴细胞、皮肤成纤维细胞和白色性腺组织的成纤维细胞中占优势 ;4 6 ,XX的核型在黄色性腺组织的成纤维细胞中占优势。外周血淋巴细胞及 3种不同组织培养物的STR位点检测、ABO血型分析和HLA检测都显示有 2个不同的单倍体来自父亲 ,1个单倍体来自母亲。组织病理学检查患者同一性腺上有两种不同组织 ,呈白色的组织是睾丸 ,呈黄色的组织是卵巢。 结论 :性腺组织病理学检查、染色体核型分析、FISH是鉴定真两性畸形患者的有效方法 ,红细胞血型、HLA和STR可为鉴定四配子异源嵌合体提供?
OBJECTIVE: To report the hermaphroditism caused by a heterozygous chimera in one case and to discuss its pathogenesis. Methods: The chromosomal karyotypes of lymphocytes, peripheral blood lymphocytes, cultured skin fibroblasts and two different gonadal fibroblasts from 1 patient with genital obscure were analyzed. Meanwhile, chromosomes X and Y were used for two-color fluorescence (FISH). The erythrocyte blood group, human leukocyte antigen (HLA) and 77 short repeat (STR) microsatellite markers were detected. Histopathological examination was performed on two different tissues of gonad of patients. At the same time, Parents for red blood cell type, HLA and STR detection. Results: The chromosome karyotypes of fibroblasts in peripheral blood lymphocytes, skin fibroblasts and white and yellow gonad tissues were all 46, XX / 46, XY. FISH showed that all the cells showed XX or XY hybridization signal. 4.6 The karyotype of XY predominates in the fibroblasts of peripheral blood lymphocytes, dermal fibroblasts and white gonadal tissues; the karyotype of 46, XX predominates in yellow gonadal fibroblasts. The detection of STR loci in peripheral blood lymphocytes and three different tissue cultures, ABO blood group analysis and HLA test showed that two different haplotypes were from the father and one haplotype was from the mother. Histopathology The patient has two different types of tissue on the same gland, a testis in white tissue and an ovary in yellow tissue. CONCLUSIONS: Histopathological examination, chromosomal karyotyping and FISH are effective methods for the identification of patients with syngenia. Erythrocyte blood group, HLA and STR can be used to identify heterologous chimera of four gametes.