GENETIC MUTATION

通報

問題一覧

CHROMOSOME ⁃ made up of — ⁃ 2— of chromosomes (— sets): each sex cell contains 2— ⁃ contains genes that determine —

DNA 23 pairs, 46 single trait

⁃ basic unit of heredity

GENES

• - picture of chromosomes arrange in pains and organized by size

Karyotype

• Humans have — chromosomes • 2 of these are —

46 sex chromosomes: (XX - female) (XY - male)

• The other 44 chromosomes are known as —.

autosomes

⁃ The change in genetic material

MUTATIONS

⁃ can be beneficial or has dangerous effect

MUTATIONS

POSSIBLE CAUSES

A. DNA Copying mistakes B. Exposure to ionizing radiation C. Direct exposure to chemicals D. Infection E. OTHER CAUSES a. Smoking b. Effect of Old Age c. Chemotherapy

TYPES OF MUTATION

SOMATIC GERMINAL CHROMOSOMAL

- occur in somatic cells or non reproductive cells

1. SOMATIC MUTATION

- cannot be transferred by sexual means

1. SOMATIC MUTATION

- an alteration of the nucleotide sequence of DNA

2. GERMINAL MUTATION

- germ cells give rise fo sex cells (sperm and egg) that will carry the mutations through mating

2. GERMINAL MUTATION

- Queen Victoria of England, hemophilia

2. GERMINAL MUTATION

- departures from what is normal or a desirable set of chromosomes either or an individual or from a species

3. CHROMOSOMAL MUTATION

- it refers also to changes in the number of sets of chromosome (—)

3. CHROMOSOMAL MUTATION ploidy

- changes in the number of individual chromosomes (—) and their appearance

3. CHROMOSOMAL MUTATION somy

CHROMOSOMAL MUTATION

Insertion Translocation Deletion Duplication Inversion

• *—* is a genetic material added from another chromosome.

INSERTION

• *—* when part of a chromosome breaks off is combined to another chromosome

TRANSLOCATION

- This type of disorder is due to chromosomal-level mutation.

TRANSLOCATION

• *—* when there is loss of part of a chromosome.

DELETION

• *—* if there are extra copies of a part of a chromosome.

DUPLICATION

• ** when the direction of a part of a chromosome is reversed.

INVERSION

GENETIC DISORDERS

1. Recessive Disorders 2. Sex-linked Disorders 3. Human Genetic Syndrome

- a child receives two defective genes from each parent

1. Recessive Disorders

- person who receives one defective recessive genes

carrier

- does not express the disorder because it is not detectable by the dominant normal gene

carrier

RECESSIVE DISORDERS

a. Sickle-cell anemia b. Tay-Sachs c. Phenylketonuria or PKU d. Cystic fibrosis

- genetic blood disorder.

a. Sickle cell anemia

- abnormally shaped red blood cells and may die at an early stage.

a. Sickle cell anemia

- lack of an important chemical in the brain.

b. Tay-Sachs

- usually die within their first five years.

b. Tay-Sachs

- rare genetic disorder that can cause serious mental retardation in infants

c. Phenylketonuria or PKU

- cannot break down phenylalanine (chemical commonly found in food)

c. Phenylketonuria or PKU

- can be treated through a special diet.

c. Phenylketonuria or PKU

- some glands produce too much mucus that it clogs and damages the lungs.

d. Cystic fibrosis

- fatal among children because it is difficult for them to breathe.

d. Cystic fibrosis

- more common in men because they have only one X chromosome

2. Sex-linked Disorders

- The most common sex-linked disorder is

color blindness and hemophilia.

- genetic disorders that may have few or too much chromosomes.

3. Human Genetic Syndrome

- A persc who survived during chromosomal mutations is categorized by a distinctive set of —

mental physical abnormalities.

- caused by the deletion of part of the short arm of chromosome 5.

a. Cri du chat

- Babies wh have this disease have a wide-set eyes, small head and jaw.

a. Cri du chat

- result from the loss of a segment in chromosome 7

b. William syndrome

- They have larg ears and facial features that make them look live elves.

b. William syndrome

- known as mongolism.

C. Down syndrome (trisomy 21)

- receives an extra chromosome (chromosome 21) and had a distinctive physical appearance.

C. Down syndrome (trisomy 21)

- It is the most common cause of mental retardation.

C. Down syndrome (trisomy 21)

- happens when there is an extra number 18 chromosome.

d. Edward syndrome (trisomy 18)

- mental retardation and physical abnormalities to the child

d. Edward syndrome (trisomy 18)

- can live beyond one year.

d. Edward syndrome (trisomy 18)

- caused by an extra copy of the number 13 chromosome.

e. Patau syndrome (trisomy 13)

- 90% of babies with this syndrome do not survive in infancy.

e. Patau syndrome (trisomy 13)

- Severe mental retardation occurred to those who survived.

e. Patau syndrome (trisomy 13)

- male who has this syndrome has two or more X-chromosomes in addition to their Y-chromosomes.

f. Klinefelter's syndrome (XXY)

- lack facial hair and their testes including prostate gland are underdeveloped.

f. Klinefelter's syndrome (XXY)

- have 45 chromosomes.

g. Turner’s syndrome

- About 96-98% do not survive birth; have no menstruation; have narrow hips; breasts are not developed; and have a broad shoulder and neck.

g. Turner’s syndrome

HUMAN GENETIC SYNDROMES

CWD - EPK - T a. Cri du chat b. William syndrome c. Down Syndrome (tri 21) d. Edward Syndrome (tri 28) e. Patau Syndrome (tri 13) f. Klinefelter's Syndrome (XXY) g. Turner's Syndrome

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