Sex Related Herederitery Disorders Flashcards
Hemophilia - what is the hereditary pattern?
XR
What is the phenomena that describes the different kinds of hemophilia?
(Factor VIII, XI,IX)
Locus Heterogeneity - multiple genes mutation can each cause similar disorder
Duchenne muscular dystrophy - Inheritance patteren ? Outcome?
XR
Death at early age from muscular failure in heart and lungs
What is the carrier female phenotype for Duchenne muscular dystrophy?
Mosaic X pattern
What are the milder form of the DMD? How does it occur?
DMD involves Frame-shift mutation
Becker Deletion - In-Frame mutation, the sequence missing is shorter
Can live to normal age with walking cane
What is the possible therapy options in the future for DMD?
In-Vivo gene editing
Adrenoleukodystrophy - What is the pattern of inheritance? Organelle damaged?
X-linked
Defective ABC transporter for Long fatty acids to the peroxisomes - no Beta-Oxidation.
Ornithine transcarbamylase deficiency - inheritance? Outcome?
X-linked
Urea cycle enzyme deficiency
Androgen Insensitivity syndrome - testosterone receptor mutation.
Inheritance? Phenotype?
X-linked
XY, Males with testicles in the abdomen and female appearance.
Kallmann Syndrome - Inheritance? Outcome?
X-linked but also Autosomal Dominant and Autosomal Recessive!
GnRH releasing cells migration from olfactory bulb to hypothalamus - developmental sex problems in each gender.
G6PD def. - Inheritance? Outcome? Advantage?
X-linked
Favism- broad bean, aspirin, sulfonamides causing hemolytic jaundice
Malaria resistance
Hypophosphatemia - Vitamin D resistant rickets. Inheritance? Outcome?
X-linked, Dominant can effect female also
Phosphate-regulating neutral endopeptidase gene mutation causing deficit in bone mineralization or either kidney reabsorption of phosphate.
Fragile X syndrome - Inheritance? Epigenetic modification? Phenotype?
X-linked, dominant so female can be effected as well.
Epigenetic modification - DNA methylation in CpG - blocking of transcription!
Altered neurotransmission causing mental retardation.
Rett Syndrome - Inheritance? Phenotype?
XD
MECP2 gene recognizing Methylated CpG is mutated causing elevated amount of heterochromatin - progressive neurodegenerative disorder, eventual mental retardation.
Baldness/ Androgenic Alopecia - Inheritance? Sex influence? Enzyme linked to it?
Autosomal Dominant in males but Recessive in females.
In theory associated with 5-alpha reductase that allows DHT, but Androgen receptor is more critical .
Precocious Puberty- Inheritance?
Sex limiting cascade - Autosomal Dominant. Steroid hormones are influencing the development. LH receptor mutation.
Homoplasmy and Heteroplasmy
Homoplasmy - MtDNA selection is restricting mutated ones from inheritance
Heteroplasmy - MtDNA selection is allowing mutated ones to be inherited
Y-Linked inheritance example
SRY gene - Azoospermy is Y-linked but the mutation is always novel not inherited.
In DMD what is the consequence of the deletion?
Frame shift Mutation
In BMD what is the consequence of the deletion?
In Frame Mutation
