BÀI 11 CÁC PHƯƠNG PHÁP NGHIÊN CỨU DI TRUYỀN NGƯỜI Bộ nhiễm sắc thể người Putting It All Together (AUG-TER) Family Studies Chromosome Interval Candidate Genes Genes in Interval ESTs, unidentified ESTs, unidentified ESTs, highly similar to patched [Drosophila melanogaster] Phosphofructokinase (PFK) BMPR2 Positional & * Functional candidate for PPH ESTs, unidentified Deleted in pancreatic cancer (DPC1) ESTs, unidentified Genetic Mapping Computer Search Disease Mutation Met A A Met TT GG Val G G Val TT CC Ser T T Ser CC AA Leu C C Leu TT GG Gln C T AA STOP AA Pro C C CC GG Cys T T GG TT Mutation Detection Bộ gen người Số cặp bazơ số NST Phil Hieter Nghiên cứu phả hệ di truyền Các kí hiệu dùng nghiên cứu phả hệ the marriage & procreation between close relatives Các kí hiệu dùng phả hệ • The genotypes of most of the individuals in this pedigree can be determined by examining the pattern in which the trait occurs • Notice that the first-born daughter in the third generation has attached lobes, although both of her parents have free earlobes • By applying Mendel's principles, you can figure out that the attachedearlobe trait must therefore be recessive • If the trait for attached earlobes were dominant, then at least one of her parents would have attached earlobes • It is possible to figure out the Các kí hiệu dùng phả hệ Phả hệ dòng tộc nữ hồng Victoria Peter J Russell, iGenetics: Copyright © Pearson Education, Inc., publishing as Benjamin Cummings Phả hệ dòng tộc nữ hồng Victoria Phân tích phả hệ siblings or sibs: offspring of parents carrier: individual who does not show a phenotype but who passes a mutation to their offspring (always heterozygotes and always a recessive gene) Di truyền liên kết giới tính y học • Red-green colorblindness is a common sex-linked disorder that involves a malfunction of light-sensitive cells in the eyes • Some affected people have difficulty distinguishing reds from greens • The half-filled circles represent carriers Circles representing females whose genotypes are unknown are marked with a question mark Nghiên cứu người đồng sinh Sinh đôi khác trứng Sinh đơi trứng Khơng có quan hệ họ hàng Sự bất hoạt NST X • X chromosome has many more genes than the Y chromosome • Females have Xs One X must be inactivated to preserve gene dosage Inactive Xs condense to form Barr bodies during development Inactivation is random during development Thể Barr nữ giới Mầu sắc mèo có NST X bất hoạt Barr Bodies Thể Barr XX X X X X X X Black Fur Orange Fur Lông đen Lông cam ... Mutation Detection Bộ gen người Số cặp bazơ số NST Phil Hieter Nghiên cứu phả hệ di truyền Các kí hiệu dùng nghiên cứu phả hệ the marriage & procreation between close relatives Các kí hiệu dùng phả...Bộ nhiễm sắc thể người Putting It All Together (AUG-TER) Family Studies Chromosome Interval Candidate Genes Genes in Interval ESTs, unidentified ESTs, unidentified... offspring of parents carrier: individual who does not show a phenotype but who passes a mutation to their offspring (always heterozygotes and always a recessive gene) Di truyền liên kết giới tính y