Original Genetics Flashcards
What is the haploid number of chromosomes?
23 - as is found in the germ cells
What is the diploid number of chromosomes?
46 - as is found in the somatic cells
What are the different types of chromosomes?
1) Metacentric chromosome - when the short and long arms are approx. equal length
2) Submetacentric chromosome - when one arm is obviously longer than the other
3) Acrocentric chromosome - when the centromere is situated at the top of chromosome
What are the chromosome arms called?
p and q arms
How do somatic cells divide?
Mitosis
How do germ cells divide?
Meiosis
How does meiosis occur?
Meiosis I - homologous chromosome pairs cross over then separate (still diploid)
Meiosis II - sister chromatids separate (now haploid)
Produces sperm/ova
What are the most common trisomy conditions?
Down syndrome - trisomy 21
Edward’s syndrome - trisomy 18
Patau syndrome - trisomy 13
Klinefelter syndrome - 47XXY
What is the most common monosomy?
Turner syndrome - 45X
What proportion of Down syndrome is accounted for by non-disjunction?
95% - when there is 3 separate copies of chromosome 21
What are the features of Down syndrome?
Learning difficulties
Atrioventricular septal defect
Upslanting palpebral fissures
Epicanthic folds
Flat midface
What are the features of Edwards syndrome?
Profound learning difficulties
Congenital heart disease, commonly VSD
Facial clefts
Clenched hands
Rocker-bottom feet
Spina bifida
What are the features of Patau syndrome?
Profound learning difficulties
Cardiac - VSD/ASD
Left lip/palate
Holoprosenecephaly
Microphthalmia/anophthalmia
Polydactyly
Scalp defects /Omphalocele/Renal anomalies
What is more common, Edwards or Patau?
Edwards
What proportion of Turner’s syndrome foetuses make it to term?
1%, they don’t tend to survive due to fetal hydrops
What is the consequence of balanced reciprocal translocation?
Usually there is no phenotypic consequences
What are the possible outcomes for a woman with a balanced reciprocal translocation?
1) A normal pregnancy with normal karyotype
2) A normal pregnancy with the familial balanced reciprocal translocation
3) A spontaneous miscarriage owing to an unbalanced product of the familial translocation
4) A pregnancy that goes to term but the child has a high likelihood of learning difficulties and possibly other congenital anomalies associated with an unbalanced product of the familial reciprocal translocation
What do you do if you detect an unbalanced reciprocal translocation prenatally?
Counsel parents that it is likely to be associated with fetal anomaly
What do you do if you detect balanced reciprocal translocation prenatally?
Karyotype the parents - ?familial/de-novo
- If it is familial and the parent carrying the balanced translocation is healthy, the baby is unlikely to have problems.
- If it is de novo, it may be associated with problems and a microdeletion should be investigated for using an array comparative genomic hybridisation (aCGH)
What is imprinting?
The process by which one parental allele is preferentially silenced according to its parental origin
What imprinting disorder does paternal UPD15 (uniparental disomy) cause?
Angelman syndrome
What imprinting disorder does maternal UPD15 cause?
Prader-Willi syndrome
What are the different types of mutation?
1) Missense mutation -1 base sub
2) Frameshift mutation -1+ base insert/deleted
3) Nonsense mutation -1 base sub-> short protein
4) Splice site mutation - intron/extron
What is a missense mutation?
Single base substitutions occurring in a coding region of the disease