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Genetics, Gene: DNA segment encoding functional product ---> protein,…
Genetics
categories of genetics
Single gene defect
caused by changes or mutations of 1 gene. it can alter the protein's structure or function, leading to a genetic disorder.
Eg-Sickle cell animia, cystic fibrosis
disorders can be inherited in different ways, such as autosomal dominant, autosomal recessive, or X-linked inheritance
Chromosomal defects
also known as chromosomal abnormalities, are genetic disorders caused by changes in the number or structure of chromosomes
There are several types of chromosomal gene defects, including:
Aneuloploidy-ab in number
Deletion- a missing part of a chromosome, williams syndrome
Duplication: extra copy of a portion of a chromosome eg- charcot-marie-tooth
Inversion: reversal in the order of a segment of a chromosome, eg-hemophilia
Translocation: This is a rearrangement of genetic material between non-homologous chromosomes eg-down syndrome
Multifactorial defects
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eg- heart disease, hypertension, diabetes, autism, and some types of cancer.
Factors such as diet, physical activity, exposure to toxins, and stress can all contribute to the development of these conditions. 
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Patau: trisomy 13 - cns, postaxial polydactyly
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Klienfelter syndrome(XXY) infertile amel, hypogonodism, tall and long limbs, gynaecomastia, poor 2 sexual development
Turner (XO) short female, amenorrhea, gonadal dysgenesis, webbed neck, wide nipple spcae , poor secendory growth
as number of x chromosomes increase IQ dec, speech slur inc, cvs and skeletal anomalies increase
imprinting here one gene copy either from father or mother has been attached to methane or any other substance which makes it inactive or silences it and the other one is the only one expressed (paternal or maternal) so if the one expressed has some defect or disease then the offspring will have that particular disease in it
example prader willi maternal imprinting so problem in father (constant hunger, dev delay, hypogonadism, faliure to thrive)(happy puppet syndrome unprovoked laughter, jerky incordinated movements, dev delay)and angelmann where paternal imprinting where defect in mother
Gene: DNA segment encoding functional product ---> protein, peptide reg DNA
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