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Genotype genetic make up of an individual. Phenotype expression of a genotype: morphological, biochemical or a molecular trait Polymorphism at least two relatively common normal alleles at a locus in population
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Heterozygous
Genotype with two different alleles at a given locus, on a pair of homologous chromosomes Typically, one allele is the normal form, the other is mutant; also two different normal alleles
Compound heterozygote
Individual or a genotype with two different mutant alleles at a given locus
Hemizygous
Males in X-linked inheritance
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Dominant
Phenotype expressed in heterozygotes
Codominant
Both alleles of a pair are expressed in the heterozygous state
Incomplete Dominance
Phenotype is different from both homozygous phenotypes and severity is intermediate between them
Recessive
6 NOT phenotypically expressed in heterozygotes
Any nuclear chromosome other than the sex chromosomes; 22 pairs in human karyotype
A gene may be located on an autosome or on a sex chromosome, and may be dominant or recessive in its expression, relative to its allelic counterpart 4 types of single gene inheritance:
Autosomal X-linked dominant or recessive dominant or recessive
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Codominant
Expression of each allele can be detected even in the presence of the other
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A diagram of an extended family indicating the family members, their relationship to the proband, and their status with respect to a particular hereditary condition.
Proband/Propositus
The family member through whom the family is ascertained If affected index case
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Pedigree
Consultand person who brings family to attention by consulting a geneticist Sibs brothers and sisters; entirety of siblings sibship Kindred entire family Relatives:
First degree parents, sibs, offspring of proband Second degree grandparents, grandchildren, uncles, aunts, nephews, nieces, half-sibs Third degree first cousins
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Pedigree
Consanguineous couples who have one or more common ancestors Isolated case if there is only one affected member in a family Sporadic case disease determined to occur due to a new mutation
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Pedigree Symbols
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Age of Onset
Not all genetic disorders are congenital Age of onset depends on disease
Develop prenatally birth defects
Prenatally lethal Expressed from infancy onwards Appear later at various ages
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Genetic Heterogeneity
A genetic disorder may show heterogeneity phenotypes that are similar but are actually determined by different genotypes
Allelic Heterogeneity Locus Heterogeneity
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failure of colonic ganglia development: defective colonic motility, severe constipation. Multiple endocrine neoplasia, type II
Point mutations activate tyrosine kinase See also case #20 on page 272
Cystic Fibrosis
Discussed in detail during Biochemical Genetics See also case 10 on page 252
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