Physiological Concepts
1. Genes and Chromosomes
2. Genes are hereditary factors contained in the chromosomes consisting of DNA (Deoxyribonukleicacid).
3. Each gene contains the information that is encoded in the form of sequences of nukleutida.
4. Chromosomes are the structures that constitute the nucleus of a eukaryotic cell comprising a DNA molecule that contains genes.
5. Thread of DNA consists of two polynucleotide that each spiral thread (double twisting double helix =). A rope composed of nucleotides comprising the nucleotide sequence of the cluster of deoxyribose sugar, phosphate acid clusters and clusters of nitrogen bases.
6. Nitrogen constituent bases of DNA are composed of purine bases adenine (A) and guanine (G), and the pyrimidine bases are cytosine (C) and thymine (T).
7. Humans have 23 pairs of chromosomes that consists of 2 parts autosomes and genosom.
8. Autosomal that as many as 22 pairs of the nature of genosom that while the nature of sex as much as 1 pair. Chromosome = 44 A + XY (for sperm), 44 A + XX (for ova).
1. Nature Genome: DNA and RNA
2. Nucleic acid that has nothing to do with the nature of heredity is ADN (deoksiribo nucleic acid) and ARN (ribonucleic acid).
3. Bertangmgung DNA and RNA and protein synthesis is responsible for controlling the properties of offspring
• Cell Cycle
The cells that will reproduce duplicate the information contained in its DNA and then splitting to become two new cells. The cell cycle consists of two phases: interphase, when cells duplicate their DNA and Mitosis, when the cell splits into two.
1. Interphase
In the absence of actively dividing or resting stage although regarded as occurs when DNA replication and protein synthesis is active. Interphase is a process that takes between 10-20 hours
Interphase is further divided into three distinct periods:
- Stadium G1, the period when the resting cells undergoing mitosis after
- Stage G2, the period when the cells are actively forming protein, fat, and pieces of RNA
- S Stadium, during a period of copying DNA
2. Mitosis
Mitosis is the process that is much shorter than in interphase and lasted about an hour. Cells, which have undergone duplication at interphase, splits into two daughter cells containing the 23 pairs kromosom.proses mitotic division occurs in all cells of the living body, except the network that produces gametes cells. Mitosis consists of prophase stages, metaphase, anaphase, and telofas.
- Prophase, is the stage where the structure of the protein structure (centrioles) contained disitoplasma side or the cells begin to move in the opposite poles of the cell. This will stretch the nuclear membrane and cause rupture.
- Metaphase, is the stage during chromosome clearly appear to be two sets of couples alongside each other in the middle of the cell. There microtubules extending from centrioles kemasing each chromosome pair.
- Anaphase, is the stage during the microtubules started to pull apart chromosome pairs in order. One pair of centrioles toward one pole and the other pair of centrioles toward the other pole
- Telophase, is the stage during the middle and split the cell membrane to form a new nucleus in the two new cells that wrap around to the 23 pairs of chromosomes (46 total) contained in the cell.
• Meiosis
Meiosis is the process by which sex cells in the ovaries or testes produce eggs or sperm mature. Meiosis involves DNA replication in sex, followed by two cell divisions. Daughter cells are formed, each having n chromosomes are only 23 chromosomes. During conception (fertilization), the genetic information contained in the 23 chromosomes of eggs fused with the genetic information contained in the 23 komosom sperm. This results in a total of 46 embryos with komosom.
The difference mitosis and meiosis
No. Mitosis Meiosis
1 Once Twice cleavage cleavage
2 Generate Leads 4 2 daughter cells daughter cells
3 The number of chromosomes each daughter cell with stem cell chromosomes (2n) number of chromosomes in the daughter cells of stem cell chromosomes half
4 Occurs in body cells occurred in the reproductive organs (where the formation of sex cells
Serves 5 to multiplication of cells, pertumbuan, and repair function to form sex cells
• genotype and phenotypes
Carry genetic information in the chromosomes of the daughter cells is called genotype.
Physical picture of the genetic information they will be, tall / short, dark / light = phenotypes
Single Gene Inheritance
Genes that determine specific properties called alleles, for each trait, a single gene has two alleles controllers: one on chromosome comes from the mother and one chromosome from the father.
Heterezigot alleles and homozygous
If someone has the identical allele is homozygous (AA), and one has a different allele that codes for a trait is called heterozygous (aa).
Multifactorial inheritance
Most of the phenotypes characteristic is influenced by multiple genes. Height, Intelligence, and personality characteristics are examples of properties that are called multifactorial.
Pathophysiological concept
Mutation
Mutations are errors in the DNA sequence. Mutations can occur spontaneously, or after a cell exposed to radiation, certain chemicals, or viruses.
Most of the mutations will be identified and repaired by enzymes that work in the cell. If not detected or corrected the mutation will be inherited by all daughter cells. Mutations in gametes (egg / sperm) cause congenital defects in offspring.
Causes of mutations:
1. Spontaneous mutation
naturally induced changes:
1. Heat
2. Radiation Cornish
3. Assistance radioactive
4. The UV rays
5. Microorganisms
6. Mistakes in DNA metabolism
2. Artificial mutations
1. The use of chemical, physical and biological
2. Use of radioactive materials
3. Use of rockets, television, etc.
Congenital Defects
Defects or congenital defects, also known as birth defects, errors include genotype and phenotypes in the embryo or fetus grows. Stable genetic defects can occur, the error number of chromosomes, or environmental disturbances.
Termination of Chromosome
A chromosome can undergo three events, namely, termination, joining other kekromosom abnormally, or may disappear entirely. This can occur during meiosis or mitosis. If occurs during mitosis, the cells were exposed to usually die. If occurs during meiosis in the egg / sperm, then the resulting congenital defects or death of the embryo.
Errors in Chromosome Number
Somatic cells usually have 2n chromosomes, but many organisms have chromosomal arrangement of more or less than normal.hal tersabut caused penggandaannya improperly called aneusomi.
Example: normal = 2n
Monosomy = 2n-1
Nulisomi = 2n-2
Trisomy = 2n +1
Tetrasoni = 2n +2
Changes may occur due to the doubling of anaphase lag and lag nondisjungsi.anafase are no events on the attachment of chromatids during anaphase spindle 1.adapun meiotic non-disjunction is peristia failed separation of homologous chromosomes during anaphase of meiosis II.
Congenital Defects
No. Name of disease abnormalities of chromosome number Traits
1 2n-1 turner syndrome (monosomy) Women with sexual development is hampered, not grow breasts, short stature, infertility
2 2n + 1 Klinefelter's syndrome (trisomy) Men like women with a tendency, growing breasts, testicles do not grow, and mentally retarded
3 2n + 1 Patau syndrome (trisomy)
On autosomes no. 13, 14, 15 Signs rare disorder because, in general, the patient died a few hours or days after birth
4 2n + 1 down syndrome (trisomy)
On autosomes no. 21 The body is short, mentally retarded, slanted eyes, thick tongue
5 2n + 1 edwards syndrome (trisomy) of normal women but female secondary characteristics are not growing, there is schizophrenia
Hereditary disease
Hereditary disease is a disease caused by a genetic abnormality inherited from his parents. Decreased disease is not contagious, incurable and will continue to be passed on to offspring. recessive disease that usually decreases emerging if the homozygous state. in the heterozygous state, fenotife disease does not appear as it is covered by the dominant partner genes. One example of a case of color blindness:
B = normal
b = color blind
For example female carrier / carrier married to men of normal
XB Xb> <XBY
XB XB, XBY, XBXb, XBY
♀ normal, normal ♂, ♀ carrier, ♂ color blind
Percentage: 50% normal, 25% carrier, 25% color blind
DECREASING DISEASE
NO causes the disease name information
1 can not produce hemophilia blood clotting factor minor wounds (abrasions, bruises) can cause death
2 Color blindness can not capture certain wavelengths of light partial color blindness: can not distinguish blue-green, blue-red and red-green
3 Albino absence of melanin pigment susceptible to skin cancer and can not stand the light
4 Mental disorders due to nerve damage fenilpirufat acid levels in the blood are too high
Mechanism albino
chromosomal abnormalities of the parent
The absence of melanin gene
Not produced melanin-forming enzyme
The absence of melanin pigment
Albino
Mechanism of hemophilia
Abnormalities of chromosomes of the parent
The absence of blood clotting gene
Hemophilia
when the wound
Blood flooded many injuries
severe bleeding
wasted a lot of blood
risk of death
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