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Genetic Information
Gene basic unit of genetic information. Genes determine the inherited characters. Genome the collection of genetic information. Chromosomes storage units of genes.
DNA - is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life 2
Human Genome
Most human cells contain 46 chromosomes:
2 sex chromosomes (X,Y): XY in males. XX in females. 22 pairs of chromosomes named autosomes.
Genotypes
Phenotypes
At each locus (except for sex chromosomes) there are 2 genes. These constitute the individuals genotype at the locus. The expression of a genotype is termed a phenotype. For example, hair color, weight, or the presence or absence of a disease.
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Genotypes
Phenotypes (example)
genotypes
phenotypes
expressed even if it is paired with a recessive allele. A recessive allele is only visible when paired with another recessive allele.
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dominant allele is
Medical Genetics
Autosomal recessive
Autosomal recessive or autorecessive is a mode of inheritance of genetic traits located on the autosomes (the 22 non-sex determining chromosomes).
A recessive trait only becomes phenotypically apparent when two copies of a gene (two alleles) are present (homozygous)
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Medical Genetics
Autosomal recessive
High-risk couples, which are described as a man and the woman who are carriers of the same genetic condition, have a 25% chance with each pregnancy of conceiving a child with that condition. There is a 50% chance of producing a child who is a carrier like the parents and a 25% chance that the child will be neither a carrier nor affected with the disease.
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A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.
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Many more males than females show the disorder. All the daughters of an affected male are carriers. None of the sons of an affected male show the disorder or are carriers.
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Gene Therapy
The functional gene is carried as part of the DNA of an adenovirus (cold virus), the vector. The virus can cause a strong immune response
causing 1) the destruction of the virus and the gene destroyed or 2) death of the patient. The gene may also be incorporated into the patients DNA at random and cause lethal mutations.