Di truyền y học

Cellular Basis of CancerTế bào cơ bản gây ung thư... CANCER AND GENETICS UNG THƯ VÀ DI TRUYỀN• Cancer: genome disease Ung thư: Bệnh do gen • Causes of genomic changesNguyên nhân của gen

BÀI 12

DI TRUYỀN Y HỌC

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Cellular Basis of Cancer

Tế bào cơ bản gây ung thư

What causes Cancer?

Nguyên nhân gây ung thư là gì?

( Có thể do chất hóa học,vius hoặc vi khuẩn,có thể do bức xạ)

Hanahan and Weinberg, Cell 100: 57, 2000

CANCER AND GENETICS UNG THƯ VÀ DI TRUYỀN

• Cancer: genome disease( Ung thư: Bệnh do gen)

• Causes of genomic changes(Nguyên nhân của gen thay đổi)

• Effects of genomic changes( Tác động của thay đổi gen)

Chromosomal changes in the genome of cancer cells: tip of the iceberg

(NST thay đổi trong bộ gen của tế bào ung thư: xuất phát tiềm ẩn lớn)

Terminal

Deletion

http://www.tokyo-med.ac.jp/genet/cai-e.htm

Ring Chromosome

Robertsonian Translocation

Tế bào hình lưỡi liềm

Polymers of hemoglobin

deform red blood cells

Normal Sickle

NORMAL ABNORMAL

Named after this cutting tool… a sickle.

Tế bào hồng cầu thường

Tế bào hồng cầu hình lưỡi liềm

Tế bào ung thư

Tế bào ung thư

Tạo giao tử của cá thể XX

c XYY individuals are male, and

tend to be taller than average

Fertility is sometimes affected.

d XXX individuals are usually

normal women, although they may

be slightly less fertile and a few

have below average intelligence.

e Higher numbers of X and/or Y

chromosomes are sometimes

found, including XXXY,

XXXXY, and XXYY The effects

are similar to Klinefelter

syndrome Consequences of sex

Ảnh hưởng của NST giới tính tới cơ thể

Chiếm (0.1 % )

Chiếm 0.02 % Chiếm (0.1%)

Evidence for the Y Chromosome Mechanism of Sex Determination

characteristics fail to develop Other traits include:

i Below average height.

ii Weblike necks.

iii Poorly developed breasts.

iv Immature internal sexual organs.

v Reduced ability to interpret spatial relationships.

Hội chứng XO Turner

Features:

Female phenotype

Short stature Webbing of the neck

Small, widely-spaced

nipples Juvenile sexual development

b XXY individuals, who are male and have Klinefelter syndrome Other traits include:

i Above average height.

ii Breast development in about 50% of XXY individuals.

iii Subnormal intelligence in some cases.

Hội chứng Klinefelter

XXY_ Hội chứng Klinefelter

Male Often unusually tall; long arms and legs

Breast development

“Hairy Pinna Syndrome” Hội chứng chùm lông trên tai

Hội chưng Đao

Clefts often involve the lip, the roof

of the mouth (hard palate) or the soft tissue in the back of the mouth (soft

palate)

During the first trimester of pregnancy the two sides of the mouth and lip area grow together A combination of genetic and environmental factors sometimes interfere with this development, and a cleft results.

Nứt môi hở hàm ếch

The vast majority of hemangiomas fall into the category of port-wine stains or small “birthmarks”, with only 15% being of the tumor variety

or needing medical intervention.

To remove some protruding hemangiomas surgically would result in bleeding to death As the blood vessels in the area die, part or all of the mass can be removed Laser surgery has been extremely effective for hemangiomas…even removal of

the “stain” variety.

Club foot is a birth defect of the foot and ankle It can occur in one or both feet Advances in medicine have been useful in the surgical correction of problems This defect occurs in the first trimester of pregnancy… during

formation.

Chân khèo

Dwarfism is a genetic/genetic linked disorder All forms of dwarfism are characterized by small stature The overwhelming majority of these individuals enjoy normal intelligence, normal life spans, and reasonably good health Medical problems are often linked to

orthopedic complications.

In most forms of dwarfism, only the

long bones are shortened This

produces a body image that is quite

disproportionate Dwarfs, men and

women, rarely grow over 4’ 10”

tall.

Nguyên nhân gây còi cọc

Examples of Autosomal Dominant Disorders

• Neurofibromatosis – Benign tumors in skin or deeper

• Familial Hypercholesterolemia – High blood cholesterol and propensity for heart disease

• Progeria – Drastic premature aging, rare, die by age 13 Symptoms include limited growth, alopecia, small face and jaw, wrinkled skin, atherosclerosis, and cardiovascular problems but mental development not affected.

Examples of Autosomal Recessive Disorders

• Phenylketoneuria (PKU) – Inability to break

down the amino acid phenylalanine Requires

elimination of this amino acid from the diet or

results in serious mental retardation

• Galactosemia – enlarged liver, kidney failure,

brain and eye damage because can’t digest milk

sugar

• Cystic Fibrosis – affects mucus and sweat glands,

thick mucus in lungs and digestive tract that

interferes with gas exchange, lethal

• Tay Sachs Disease – Nervous system destruction

due to lack of enzyme needed to break down lipids

necessary for normal brain function Early onset

and common in Ashkenazi Jews; results in

blindness, seizures, paralysis, and early death

Constitutional cytogenetic

abnormalities

Th ể trạng di truyền tế bào không ổn định

Robertsonian translocation; 45,XX,rob(13,14)

Constitutional cytogenetic

abnormalities

Th ể trạng di truyền tế bào không ổn định

Trisomy 21; 47,XX,+21

Constitutional cytogenetic

abnormalities

Thể trạng di truyền tế bào không ổn định

DiGeorge Syndrome; chromosome 22 deletion

Acquired cytogenetic

abnormalities

Th ể trạng di truyền tế bào không ổn định

Philadelphia chromosome; 46,XX,t(9,22)

Acquired cytogenetic

abnormalities

Th ể trạng di truyền tế bào không ổn định

Inversion 16; 46,XY,inv(16)