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家族性黑色素瘤家族中的哈维 - ras 癌基因限制性片段等位基因

Harvey-ras oncogene restriction fragment alleles in familial melanoma kindreds.

作者信息

Sutherland C, Shaw H M, Roberts C, Grace J, Stewart M M, McCarthy W H, Kefford R F

出版信息

Br J Cancer. 1986 Nov;54(5):787-90. doi: 10.1038/bjc.1986.241.

Abstract

Unique and uncommon BamHI allelic restriction fragments of the Ha-ras locus have been reported in the genomes of patients with cancer and of three affected members of a familial melanoma kindred (Krontiris et al., 1986). Analysis of the BamHI and Msp/HpaII restriction fragments of peripheral blood leucocyte DNA from the members of two families with hereditary melanoma (HM)/familial dysplastic naevus syndrome (DNS) revealed that the only Ha-ras allele common to four affected members of one kindred and two from a second kindred, was the 6.7kb allele which is found in 66% of the normal population. This allele was found equally in affected and non-affected family members, and in one affected case was inherited from an unaffected homozygous parent. It was absent in two affected sisters in a third kindred. In the first kindred the karyotype of all three melanoma sufferers was 46XX 9qh+, while six unaffected members had a normal karyotype. BamHI polymorphism of the Ha-ras gene does not identify the affected members in the HM/DNS families studied.

摘要

在癌症患者以及一个家族性黑色素瘤家族的三名患病成员的基因组中,已报道了Ha-ras基因座独特且罕见的BamHI等位基因限制性片段(Krontiris等人,1986年)。对两个患有遗传性黑色素瘤(HM)/家族性发育异常痣综合征(DNS)家族成员外周血白细胞DNA的BamHI和Msp/HpaII限制性片段进行分析后发现,在一个家族的四名患病成员和另一个家族的两名患病成员中唯一共有的Ha-ras等位基因是6.7kb的等位基因,该等位基因在66%的正常人群中存在。在患病和未患病的家庭成员中均发现了该等位基因,并且在一个患病病例中,它是从未患病的纯合亲本遗传而来的。在第三个家族的两名患病姐妹中未发现该等位基因。在第一个家族中,所有三名黑色素瘤患者的核型均为46XX 9qh+,而六名未患病成员的核型正常。在所研究的HM/DNS家族中,Ha-ras基因的BamHI多态性无法识别出患病成员。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/028e/2001542/dd9e9bfd07ab/brjcancer00522-0069-a.jpg

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