生长抑制因子家族(inhibitor of growth family,ING)ING1-ING5,被认为是候选肿瘤抑制基因家族,ING3(inhibitor of growth family member 3)在人类正常组织中广泛表达,在多数恶性肿瘤中ING3表达下调,如头颈部鳞状细胞癌、人皮肤恶性黑色...生长抑制因子家族(inhibitor of growth family,ING)ING1-ING5,被认为是候选肿瘤抑制基因家族,ING3(inhibitor of growth family member 3)在人类正常组织中广泛表达,在多数恶性肿瘤中ING3表达下调,如头颈部鳞状细胞癌、人皮肤恶性黑色素瘤、肝癌等,并且起到抑制肿瘤发生发展的作用。然而,新近的研究发现,ING3促进了前列腺癌的发展。本文将对ING3在不同类型的恶性肿瘤中可能起到不同的作用作一综述。展开更多
Background：H syndrome （OMIM 612391） is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the ...Background：H syndrome （OMIM 612391） is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India.The syndrome is caused by mutations in solute carrier family 29,member 3 （SLC29A3）,the gene encoding equilibrative nucleoside transporter 3.The aim of this study was to identify pathogenic SLC29A 3 mutations in a Chinese patient clinically diagnosed with H syndrome.Methods：Peripheral blood samples were collected from the patient and his parents.Genomic DNA was isolated by the standard method.All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction （PCR）-amplified and the PCR products were subjected to direct sequencing.Results：The patient,an 18-year-old man born to a nonconsanguineous Chinese couple,had more extensive cutaneous lesions,involving both buttocks and knee.In his genomic DNA,we identified a novel homozygous insertion-deletion,c.1269_1270delinsA,in SLC29A3.Both of his parents were carriers of the mutation.Conclusions：We have identified a pathogenic mutation in a Chinese patient with H syndrome.展开更多
文摘生长抑制因子家族(inhibitor of growth family,ING)ING1-ING5,被认为是候选肿瘤抑制基因家族,ING3(inhibitor of growth family member 3)在人类正常组织中广泛表达,在多数恶性肿瘤中ING3表达下调,如头颈部鳞状细胞癌、人皮肤恶性黑色素瘤、肝癌等,并且起到抑制肿瘤发生发展的作用。然而,新近的研究发现,ING3促进了前列腺癌的发展。本文将对ING3在不同类型的恶性肿瘤中可能起到不同的作用作一综述。
文摘Background：H syndrome （OMIM 612391） is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India.The syndrome is caused by mutations in solute carrier family 29,member 3 （SLC29A3）,the gene encoding equilibrative nucleoside transporter 3.The aim of this study was to identify pathogenic SLC29A 3 mutations in a Chinese patient clinically diagnosed with H syndrome.Methods：Peripheral blood samples were collected from the patient and his parents.Genomic DNA was isolated by the standard method.All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction （PCR）-amplified and the PCR products were subjected to direct sequencing.Results：The patient,an 18-year-old man born to a nonconsanguineous Chinese couple,had more extensive cutaneous lesions,involving both buttocks and knee.In his genomic DNA,we identified a novel homozygous insertion-deletion,c.1269_1270delinsA,in SLC29A3.Both of his parents were carriers of the mutation.Conclusions：We have identified a pathogenic mutation in a Chinese patient with H syndrome.
