Bài giảng Sinh học Lớp 12 - Bài 11: Các phương pháp nghiên cứu di truyền người

BÀI 11 CÁC PHƯƠNG PHÁP NGHIÊN CỨUDI TRUYỀN NGƯỜI 
Bộ nhiễm sắc thể người 
Genetic Mapping 
Family 
Studies 
Chromosome 
Interval 
Met A A Met 
 T T 
 G G 
Val G G Val 
 T T 
 C C 
Ser T T Ser 
 C C 
 A A 
Leu C C Leu 
 T T 
 G G 
Gln C T 
 A A 
 A A 
Pro C C 
 C C 
 G G 
Cys T T 
 G G 
 T T 
STOP 
* 
1.	ESTs, unidentified 
2.	 ESTs, unidentified 
3.	ESTs, highly similar to patched [Drosophila melanogaster] 
4.	Phosphofructokinase (PFK) 
5.	 BMPR2 Positional & Functional candidate for PPH 
6.	ESTs, unidentified 
7.	Deleted in pancreatic cancer 1 (DPC1) 
8.	ESTs, unidentified 
Computer 
Search 
Mutation 
Detection 
Candidate 
 Genes 
Disease 
Mutation 
Putting It All Together (AUG-TER) 
Genes in Interval 
Bộ gen người 
Số cặp bazơ ở một số bộ NST 
Phil Hieter 
Nghi ên cứu phả hệ trong di truyền 
Các kí hiệu dùng trong nghiên cứu phả hệ 
the marriage & procreation between close relatives 
Các kí hiệu dùng trong 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 attached-earlobe 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 genotypes for most of the other people in the pedigree in this way. 
Các kí hiệu dùng trong phả hệ 
Peter J. Russell, iGenetics : Copyright © Pearson Education, Inc., publishing as Benjamin Cummings. 
Ph ả hệ d òng tộc n ữ hoàng Victoria 
Ph ả hệ dòng tộc nữ hoàng Victoria 
Phân tích phả hệ 
for dominant genes, there can be no carriers, only affected individuals 
Phân tích phả hệ 
siblings or sibs : offspring of 2 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 truy ền liên kết giới tính trong 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. 
Sinh đôi cùng trứng 
Sinh đôi khác trứng 
Kh ông có quan hệ họ hàng 
Nghiên cứu người đồng sinh 
Sự bất hoạt của NST X 
Inactivation is random during development 
M ầu sắc của mèo cái có NST X bất hoạt 
X chromosome has many more genes than the Y chromosome 
Females have 2 Xs 
One X must be inactivated to preserve gene dosage 
Thể Barr ở nữ giới 
Inactive Xs condense to form Barr bodies during development 
Barr Bodies 
Thể Barr 
X 
X 
X 
Black Fur 
Lông đen 
X 
X 
X 
Orange Fur 
Lông cam 
X 
X