疾病的单基因遗传.pptVIP

疾病的单基因遗传;single-gene disorder or monogenic disorder Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore, it’s also called Mendelian diseases. ;*;1. Pedigree and Proband;;;;;;Symbols;;*;;*; 遗传性非息肉性结直肠癌(HNPCC)的发生与DNA错配修复缺陷有关，已知至少有5种错配修复（mismatch repair，MMR）基因(MSH2、MLH1、MSH6、PMS1 和PMS2 )与其有关。目前已在HNPCC患者???发现了400多种MMR 基因的突变，其中 MSH2 基因突变约占50％，MLH1 基因突变约占39％。;通过PCR扩增