Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
36 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
Medelian disorder |
Genetic disorder which transmit from one gen to next gen following Mendel's principle of inheritence |
Genetic disorder |
|
|
What controlled medelian disorder |
Dominant or recessive genes |
|
|
|
Types of medelian disorder |
Autosomal disorder and sex linked disorder |
|
|
|
Eg of medelian disorder |
Auto..:cystic fibrosis,sickle cell anaemia Sex link--haemophilia,colourblindness |
|
|
|
Cystic fibrosis |
Caused by an atosomal recessive mutant allele located on chromosome no. 7 |
|
|
|
Classes of cystic fibrosis |
High secretion of mucus disturbing to the normal function -liver,lungs,pancreas etc,disesase bronchitis ,astma |
Mucus accumates |
|
|
Phenylketonuria |
Caused by autosomal recessive mutant allele located on chromosome no. 12 |
12 |
|
|
Cause and effect of phenylketonuria |
Inborn metabolic disorder which lacks an enzyme called phenylalanine hydoxylase. Mental retardation |
Enzyme is essential for converting to tyrosine |
|
|
Sickel cell anemia |
Caused by recce. Mutant allele located on chro no. 11 |
11 |
|
|
Cause and effect of SCA |
Mutant Gene causes the replacement of glutamic acid(GAG) by valine(GUG) at 6th position of B chain of haemoglobin (Hb) |
|
|
|
Haemophilia |
It is sex linked recessive disorder or disease. It is caused by recessive Gene located on x chromosome. |
|
|
|
Types of haemophilia |
Haemophilia A-lack of blood clotting factor no.VIII Haemophilia B/Christmas disease:lack of blood clotting factor no.IX |
Blood clott |
|
|
Why haemophilia B known as royal disease |
Coz it was 1st noticed from the royal families of europe |
Families of europe |
|
|
Clotting factor no.VIII |
Antihaemophilliac globulin |
|
|
|
Clotting factor no. IX |
Plasma thromboplastin |
|
|
|
Color blindness |
It is recessive sex linked disorder carried by x chromosome |
X chromosome |
|
|
Protanopia |
Red color blindness |
|
|
|
Deuteranopia |
Green color blindness |
|
|
|
Color blindness test |
Ishihara's test |
|
|
|
Downs syndrome |
Autosomal disorder -caused by the presence of extra chromosome at 21st chromosome |
|
|
|
Chromosome no. Of down syndrome |
Teisomy(2n+1) No.47 Males and females |
|
|
|
Who reported down syndrome and another name |
Langdon down Mangolian idiocy |
|
|
|
Symptoms of down syndrome |
Rounded face,prominent forehead,open mouth,protruded tongue and projecting lower lips,short neck,heart defect and lower IQ |
|
|
|
Klinefelter's syndrome |
Sex chromosomal disorder Caused by presence of an extra x chromosome in males I.e 44+xxy=47(2n+1) |
|
|
|
Chromosome no. Of Klinefelter, syndrome |
It is trisomy(2n+1) 47 Occurs in male |
|
|
|
Symptoms of klinefelter's syndrome |
Under developed testes,sparse body hairs,enlarged breast,fremeline voice,long limbs,mental retardation |
|
|
|
Turner's syndrome |
It is sex chromosomal disorder Caused by absence of one X-chromosome in female i.e 44+XO |
|
|
|
Chromosome no. Of Turner's syndrome |
It is monosomy(2n-1) 45 Occurs in female |
|
|
|
Symptoms of Turner's .. |
Under developed ovaries and breast,small uretus,absence of menstrual cycle and sex chromatin,narrow hips,webbed neck |
|
|
|
Chromosomal disorder vs mendelian disorder |
|
|
|
|
Hypertrichosis |
Growing of hairs around the pinna |
|
|
|
Y linked characters |
Characters associates with y linked Gene(holandric Gene) |
|
|
|
Sex limited characters and eg |
The characters which express only one sex Eg-pattern baldness in males and milk secretion in mammalian female |
|
|
|
Sex influenced characters and eg |
The characters like sex linked characters which are expressed more frequently in one sex than in the other. Influence by sex hormone Eg devp of bear,moustache in males |
|
|
|
Coupling or repulsion theory |
Proposed by bateson and punette. Genes or allele which come from same parent tend to enter same gamete,while those coming them different parents tends to enter diff gametes |
|
|
|
Polygenic inheritance/quantitative inheritance |
It is inheritance of character in which the character is controlled by 3 or more genes and intensified the colours which depends on the no.of dominant alleles or genes Eg human skin color Kernel color in wheat |
|
