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Deletion Mapping of Chromosome 1p and 22q in Pheochromocytoma

机译:嗜铬细胞瘤中染色体1p和22q的缺失定位

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摘要

To identify the localization of tumor suppressor genes, 22 pheochromocytomas (9 hereditary and 13 sporadic) were examined for loss of heterozygosity (LOH) on the short arm of chromosome 1 and on the long arm of chromosome 22 by using 11 polymorphic DNA markers on each chromosome arm. LOH on 1p was observed in 12 of 22 informative cases (55%) and on 22q in 8 of 20 informative cases (40%). There was no significant difference in the frequency of LOH on 1p or 22q between hereditary and sporadic cases. We could localize the commonly deleted regions as distal to D1S73 and proximal to D1S63 on 1p and distal to D22S24 and proximal to D22S1 on 22q. In addition, the relationship between LOH on 1p and 22q was studied in 20 pheochromocytomas which were informative for probes on both chromosome arms. Of eight tumors that showed LOH on 22q, allelic loss on 1p was also detected in seven. Thus, LOH on 22q was correlated significantly with LOH on 1p (P= 0.0249; Fisher's exact test). These results suggest that inactivation of multiple tumor suppressor genes may be required for development and progression of hereditary and non‐hereditary pheochromocytoma.
机译:为了确定肿瘤抑制基因的定位,通过在每个染色体上使用11个多态性DNA标记分别检查了22个嗜铬细胞瘤(9个遗传性和13个散发性)在1号染色体短臂和22号染色体长臂上的杂合性(LOH)丧失。染色体臂。在22例资料丰富的案例中有12个(55%)观察到1p的LOH,在20例资料丰富的案例中有8个(22%)出现在22q上。遗传性病例和散发性病例在1p或22q时LOH频率无明显差异。我们可以将通常删除的区域定位在1p的D1S73的远端和D1S63的近端,以及22q的D22S24的远端和D22S1的近端。此外,在20个嗜铬细胞瘤中研究了1p和22q的LOH之间的关系,这些信息有助于两个染色体臂上的探针。在22q处显示LOH的8个肿瘤中,在7个中也检测到1p的等位基因缺失。因此,22q的LOH与1p的LOH显着相关(P = 0.0249; Fisher精确检验)。这些结果表明,遗传性和非遗传性嗜铬细胞瘤的发生和发展可能需要多个肿瘤抑制基因的失活。

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