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神经母细胞瘤中11号染色体q臂和14号染色体q臂上等位基因的杂合性缺失

Loss of heterozygosity for alleles on chromosomes 11q and 14q in neuroblastoma.

作者信息

Srivatsan E S, Murali V, Seeger R C

机构信息

Division of Hematology/Oncology, Childrens Hospital of Los Angeles, California.

出版信息

Prog Clin Biol Res. 1991;366:91-8.

PMID:2068183
Abstract

Partial monosomy for the short arm of chromosome 1 is a frequent cytogenetic abnormality in neuroblastomas. Molecular genetic analysis of tumor samples using chromosome specific polymorphic DNA markers has identified somatic loss of heterozygosity for alleles on chromosomes 1p (1p36.1-1p36.3) and 14q. In order to determine if other chromosomal losses occur and to further investigate chromosome 14, we used polymorphic DNA markers localized to chromosome 11 and 14 to analyze fifteen neuroblastomas and corresponding constitutional cells. Somatic loss of heterozygosity was observed in 5 of 12 informative cases (42%) for chromosome 11q (11q13-11q23) and 4 of 12 cases (33%) for chromosome 14q specific alleles. Two of the five tumors that had lost 11q alleles retained heterozygous alleles for sequences on 14q. The other three samples had lost both the 11q and 14q allelic sequences. These results suggest that in addition to chromosomes 1p and 14q, sequences localized to 11q may also play an important role in the development and/or progression of neuroblastomas.

摘要

1号染色体短臂部分单体性是神经母细胞瘤中常见的细胞遗传学异常。使用染色体特异性多态性DNA标记对肿瘤样本进行分子遗传学分析,已确定1号染色体(1p36.1 - 1p36.3)和14号染色体上等位基因的杂合性体细胞丢失。为了确定是否发生其他染色体丢失并进一步研究14号染色体,我们使用定位于11号和14号染色体的多态性DNA标记分析了15例神经母细胞瘤及相应的正常细胞。在12例信息充分的病例中,5例(42%)观察到11号染色体长臂(11q13 - 11q23)杂合性体细胞丢失,12例中有4例(33%)观察到14号染色体长臂特异性等位基因杂合性体细胞丢失。丢失11号染色体等位基因的5个肿瘤中有2个在14号染色体上的序列保留了杂合等位基因。其他3个样本同时丢失了11号和14号染色体的等位基因序列。这些结果表明,除了1号和14号染色体外,定位于11号染色体长臂的序列可能在神经母细胞瘤的发生和/或进展中也起重要作用。

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