১.
X linked recessive disorder -
PrepBank · বিষয়ভিত্তিক প্রশ্ন
Hereditary Disorders
Hereditary Disorders
PrepBank · পাতা ১ / ১ · ১–৯ / ৯
২.
Hormone defect causing following abnormality in bone except -
ব্যাখ্যা
Explanation :
Defect in hormone :
Achondroplasia
Hypochondroplasia
Osteopetrosis
Thalantophoric dysplasia
Defect in extracellular structural proteins -
Osteogenesis imperfecta
Defect in hormone :
Achondroplasia
Hypochondroplasia
Osteopetrosis
Thalantophoric dysplasia
Defect in extracellular structural proteins -
Osteogenesis imperfecta
৩.
Common genetic disorders associated with enzymes defect except -
ব্যাখ্যা
Explanation :
Mostly all autosomal recessive disorders are related to enzyme.
Mostly all autosomal recessive disorders are related to enzyme.
৪.
Mode of inheritance of autosomal dominant disorder-
৫.
Autosomal dominant inheritance -
ব্যাখ্যা
Explanation :
Autosomal dominant inheritance -
At least one parent of a case is affected
Both male and female canbe equally affected.
Consecutive generations are affected
Presents in heterozygous state
Autosomal dominant inheritance -
At least one parent of a case is affected
Both male and female canbe equally affected.
Consecutive generations are affected
Presents in heterozygous state
৬.
Which disorder is called rubber man or human pretzels -
ব্যাখ্যা
Ehlers danlos syndrome is a condition where there is poorly developed collagen,easy to hurt,poor healers,cigarette paper like skin known as rubber man or human pretzels.
৭.
Which type of mutation occurs in hypertrophic cardiomyopathy?
ব্যাখ্যা
Explanation: Hypertrophic cardiomyopathy results in diastolic (relaxation) dysfunction. Virtually all cases are due to autosomal dominant mutation
৮.
Examples of disease have multifactorial inheritence -
ব্যাখ্যা
Explanation :
Multifactorial ( polygenic) inheritance disorders -
Cleft lip and or palate
Congenital dialocation of hip
Congenital heart defects
Gout
Hypertension
Diabetes
Neural tube defects
Multifactorial ( polygenic) inheritance disorders -
Cleft lip and or palate
Congenital dialocation of hip
Congenital heart defects
Gout
Hypertension
Diabetes
Neural tube defects
৯.
Features of autosomal recessive disorders -
ব্যাখ্যা
Explanation -
The expression of the defect tends to be more uniform than in autosomal dominant disorders.
• Complete penetrance is common.
• Onset is frequently early in life.
• Although new mutations associated with recessive disorders do occur, they are rarely detected clinically.
Since the individual with a new mutation is an asymptomatic heterozygote, several generations may pass before the descendants of such a person mate with other heterozygotes and produce affected offspring.
• Many of the mutated genes encode enzymes. Occurs due to defect in enzymes.
The expression of the defect tends to be more uniform than in autosomal dominant disorders.
• Complete penetrance is common.
• Onset is frequently early in life.
• Although new mutations associated with recessive disorders do occur, they are rarely detected clinically.
Since the individual with a new mutation is an asymptomatic heterozygote, several generations may pass before the descendants of such a person mate with other heterozygotes and produce affected offspring.
• Many of the mutated genes encode enzymes. Occurs due to defect in enzymes.