CÁC PHƯƠNG PHÁP NGHIÊN CỨU DI TRUYỀN NGƯỜI

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
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

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 ở một số bộ NST

Phil Hieter


Nghiên 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 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 trong phả hệ


Phả hệ dịng tộc nữ hồng Victoria

Peter J. Russell, iGenetics: Copyright © Pearson Education, Inc., publishing as Benjamin Cummings.

Phả hệ dịng tộc nữ
hồng Victoria


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.

Nghiên cứu người đồng sinh
Sinh đôi khác trứng

Sinh đôi cùng trứng

Khơng có quan hệ họ hàng


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
Inactive Xs condense to form
Barr bodies during development

Inactivation is random
during development

Thể Barr ở nữ giới

Mầu sắc của mèo cái có NST X
bất hoạt


Barr Bodies
Thể Barr


XX

X

X

X

X

X

X

Black
Fur

Orange
Fur

Lông đen

Lông cam