Genetic disorders 0.0 / 5 ? PsychologyGeneticsUniversityNone Created by: francesca_321Created on: 22-04-17 14:30 What is the first mendelin law of inheritance? Two elements of hereditry and these two elements segregate during reproduction 1 of 30 What is the second law of mendelin inheritance? Varieties of each trait sort independently of eachother 2 of 30 What is the cellular base of intelligence? A gene is made up of DNA and one gene makes on protein 3 of 30 What is DNA transcription? The DNA molecules is shaped like a twisted ladder and half a DNA template for copying its code and RNA 4 of 30 What is RNA translation? An intermediatry between DNA and protein because triplets of bases on RNA code for an amino acid the unit of made proteins 5 of 30 Why study genetic disorders? Decreased or absent expression of a gene A, accompanied by a deficit in function B 6 of 30 Role of A in implementing what? Function B 7 of 30 What is 21st century the dawn of? Cognitive genetics 8 of 30 What is Phenylketonuria? 1 in 10,000 people, ued to be responsible for 1% of all hospitalised cases of learning disabilities 9 of 30 What is it due to? Due to dysfunctions in pathway produing the amino acid tryosine 10 of 30 What is huntington's disorder? 1 in 10,000 - 20,000 individuals 11 of 30 What is it characterised by? Involuntary movements, personality changes and forget ulness, due to progressive damage of basal ganglia and cortex 12 of 30 What sort of disorder is it? Dominant disorder 13 of 30 What is a Sporadic mutation? Abnormalities in chromosomal numbers, caused by 14 of 30 What is an X linked disorder? Changes in number of X chromosomes, gene dysfunctions for single genes on the X chromosome 15 of 30 What is a complex trait? Schizophrenia 16 of 30 What is first example of sporadic changes? Williams syndrome 17 of 30 what is it caused by? Deletion due to errors in replication of DNA during gamete formalation 18 of 30 How often does it occur? 1 in 20,000 19 of 30 What does it cause? An IQ of 50-70 and facial dysmorphology 20 of 30 What is another sporadic changes? Downs syndrome 21 of 30 What does it cause? Abnormalities in chromosomal numbers, prevalance increases dependening on age of parents, triomsy of chromosome 21 22 of 30 What does it lead to? Facial dysmorphology and an IQ of 55 23 of 30 What is an example of X linked genes? sex chromosome are inherited differently for males and females, detecting that a gene is located on the X chromosome is easier 24 of 30 What was the first reported example of X linked genes? colour blindness: first reported case of human X linkage 25 of 30 What is there a change in? The numeber of sex chromosomes 26 of 30 For example? XO turner syndrome 27 of 30 What are the physical characteristics of Turner syndrome? Short stature and infertility howeer verbal IQ is normal but performance can be lower 28 of 30 There are changes in the number of sex chromosomes that leads to? X+ XY which leads to hormonal inbalances, lower than average IQ, speech and language difficulties 29 of 30 What is fragile X syndrome? 1 in 2000-4000 boys and 1 in 6000 girls, complex profile of relative cognitive strengths and difficulties 30 of 30
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