Soan giang(tu lieu)-di truyen phan 3

BÀI 11
CÁC PHƯƠNG PHÁP NGHIÊN CỨU
DI TRUYỀN NGƯỜI
Bộ nhiễm sắc thể người

Bộ gen người
Số cặp bazơ ở một số bộ NST
Phil Hieter
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.
Phả hệ dòng tộc nữ hoàng Victoria
Phả 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 truyền 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
Không có quan hệ họ hàng
Nghiên cứu người đồng sinh
Sự bất hoạt của NST X
X chromosome has many more genes than the Y chromosome
Females have 2 Xs
One X must be inactivated to preserve gene dosage
Barr Bodies
Thể Barr