Francis Ian L.

Salaver, RMT BMLS3A

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

Chromosome Logical Structure

Locus location of a gene/marker on the chromosome. Allele one variant form of a gene/marker at a particular locus.
Locus1 Possible Alleles: A1,A2 Locus2 Possible Alleles: B1,B2,B3
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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

Eb- dominant allele. Ew- recessive allele.

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Dominant vs. Recessive

A

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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What if only one parent has the recessive gene?

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Medical Genetics (cont.)

Autosomal dominant

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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Medical Genetics (cont.)

Autosomal dominant Affected males and females appear in each generation of the pedigree. Affected mothers and fathers transmit the phenotype to both sons and daughters.

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Medical Genetics (cont.)

X-linked recessive

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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Medical Genetics (cont.)

X-linked dominant Affected males pass the disorder to all daughters but to none of their sons. Affected heterozygous females married to unaffected males pass the condition to half their sons and daughters

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Medical Genetics (cont.)

Codominant inheritance
Two different versions (alleles) of a gene can be expressed, and each version makes a slightly different protein Both alleles influence the genetic trait or determine the characteristics of the genetic condition. E.g. ABO locus

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Medical Genetics (cont.)

Mitochondrial inheritance This type of inheritance applies to genes in mitochondrial DNA Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. E.g. Leber's hereditary optic neuropathy (LHON)

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Gene Therapy

Replacing a defective gene with a functional gene. Problems:

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.