Tutorial 1 Humanistic Care Video Discussion Student.pdf

Ddisease causing nunchanged gene autosomal recessive

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D=Disease causing n=Unchanged gene
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Autosomal recessive inheritance inheritance is ‘horizontal’ – affected individuals tend to be limited to a single sibship disease not found in multiple generations both males and females affected parents of affected child are usually normal but heterozygous for the mutant allele
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Counselling on AR inheritance Another way to present it to a family
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X-Linked inheritance caused by mutant genes on the X chromosome males have only a single X chromosome and are affected females have two X chromosomes; recessive X-linked disorders are rarely expressed in females
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X-linked inheritance-for families
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Penetrance Concept referring to the all or none expression of a mutant genotype. Usually refers to dominant traits in heterozygotes. If a condition is expressed in less than 100% of persons who carry the responsible allele, it is said to have reduced penetrance eg. 70% of people with the mutant allele express symptoms of the condition, it is said to be 70% penetrant
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Expressivity Expressivity is the extent to which a genetic condition is expressed if there is variable expressivity, the condition may vary from mild to severe, but is never completely unexpressed in individuals who have the mutant allele
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  • Spring '18
  • Genetics, DNA, Angelman Syndrome, University of Hong Kong, Dr. Christopher Chun Yu Mak, Department of Paediatrics and Adolescent Medicine

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