3.1 GENES Flashcards
GENE
is a heritable factor that controls or influences a specific character consisting of a length of DNA occupying a particular position on chromosome
GENE FACTS
Humans: 21,000-23,000 protein coding genes
.Each chromosome contains many different genes often linked in groups.
NUMBER OF GENES AND COMPLEXITY OF ORGANISMS
The number of genes in an organism’s genome does not indicate how complicated an organism is, for example dogs have larger genome than human `
LOCUS
Each gene occupies a specific location or position on a chromosome called a locus
CHROMOSOME NUMBER IN HUMAN DIPLOID CELL
46 chromosomes in a human diploid cell
FEMALE GENES
23 pairs including two X chromosomes .
MALE GENES
22 pairs plus and X and
Y chromosome
ALLELE
one specific form of a gene, differing from other alleles by one or a few bases only and occupying the same gene locus as other alleles of the same gene.
NUMBER OF ALLELES AND GENES
There can be two or more alleles of a specific gene depending on the gene. ␣
ALLELES AND BLOOD TYPE
The gene that influences human blood type has three different alleles that code for blood types A, B and O.
Since each human cell consists of 2 copies of each chromosome
(except X and Y)
there are two copies of each gene.
homozygous
two of the same allele
heterozygous
two different alleles
GENE MUTATION
is a permanent change in the base sequence of DNA. Not all mutation causes disease.
BASE CHANGE
When one of the bases is changed, this will cause a change in the mRNA sequence when the DNA is copied during transcription of the gene.
SICKLE CELL ANEMIA
a disease that causes red blood cells to form a sickle shape (half-moon). These sickled blood cells cannot carry as much oxygen as normal red blood cells.
CONSEQUENCES OF SICKLE CELL ANEMIA
They can cause clots in blood vessels (capillaries) because of their abnormal shape and inflexibility caused by crystallization of the abnormal hemoglobin.
BENEFITS OF SICKLE CELL ANEMIA
Sickle-cell anaemia gives immune to malaria, which is a parasite disease carried by mosquitoes.
Malaria cannot infect sickle cells. So people with sickle cell trait are resistance to the disease.
LOCATION OF SICKLE CELL ANEMIA
Sickle cell anaemia occurs on chromosome 11, happens ob gene HBB
CAUSES OF SICKLE CELL ANEMIA
Sickle cell is caused by a base-substitution when the adenine base in GAG is replaced by a thymine base, changing the triplet to GTG.
Glutamic acid then changed to valine, a negative charged amino acid changed to neutral one.
Amino acid sequence change will then lead to a change in protein structure.
GENOME
The whole of the genetic information of an organism
HUMAN GENOME
the genome consists of 46 chromosomes plus the mitochondrial DNA
PANT GENOME
the genome also consists of chloroplast DNA on top of their chromosomes and mitochondrial DNA
PROKARYOTES GENOME
Prokaryotes have a circular chromosome and plasmids in their genome
HUMAN GENOME PROJECT
entire base sequence of human genes was sequenced
Scientists can now also predict which sequences do code for protein