All are true about lesch-nyhan syndrome except (A) Produces self-mutilation (B) Genetic deficiency of the enzyme (C) Elevated levels of uric acid in blood (D) Inheritance is autosomal recessive

All are true about lesch-nyhan syndrome except (A) Produces self-mutilation (B) Genetic deficiency of the enzyme (C) Elevated levels of uric acid in blood (D) Inheritance is autosomal recessive
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Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy

Description : Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy

Last Answer : Answer : A

Which of the following is true of Gilbert's syndrome? 1) inheritance is autosomal recessive 2) serum conjugated bilirubin levels are elevated 3) serum bilirubin levels are decreased by fasting 4) serum bilirubin levels are decreased by liver enzyme inducers 5) there is bilirubinuria

Description : Which of the following is true of Gilbert's syndrome? 1) inheritance is autosomal recessive 2) serum conjugated bilirubin levels are elevated 3) serum bilirubin levels are decreased by fasting 4) serum bilirubin levels are decreased by liver enzyme inducers 5) there is bilirubinuria

Last Answer : Answers-4 Gilbert's syndrome is inherited in autosomal dominant fashion and affects 2-5% of the population. UDP glucuronyl transferase levels are reduced leading to an unconjugated hyperbilirubinaemia. ... the bilirubin is reabsorbed in the proximal tubule some bilirubin is detectable in the urine.

Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme: (A) Hypoxanthine-guanine phosphoribosyl transferse (B) Xanthine oxidase (C) Adenine phosphoribosyl transferase (D) Adenosine deaminase

Description : Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme: (A) Hypoxanthine-guanine phosphoribosyl transferse (B) Xanthine oxidase (C) Adenine phosphoribosyl transferase (D) Adenosine deaminase

Last Answer : Answer : A

Trials for gene therapy in human beings were first carried out, with considerable success, in a genetic disease called (A) Cystic fibrosis (B) Thalassemia (C) Adenosine deaminase deficiency (D) Lesch-Nyhan syndrome

Description : Trials for gene therapy in human beings were first carried out, with considerable success, in a genetic disease called (A) Cystic fibrosis (B) Thalassemia (C) Adenosine deaminase deficiency (D) Lesch-Nyhan syndrome

Last Answer : Answer : C

Lesch-Nyhan syndrome?

Description : Lesch-Nyhan syndrome?

Last Answer : DefinitionLesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body's genetic blueprint. ... to develop gout-like swelling in some of their joints. In some cases, kidney and bl

All of the following statements about Tangier disease are true except (A) It is a disorder of HDL metabolism (B) Its inheritance is autosomal recessive (C) Apoproteins A-I and A-II are not synthesised (D) Plasma HDL is increased

Description : All of the following statements about Tangier disease are true except (A) It is a disorder of HDL metabolism (B) Its inheritance is autosomal recessive (C) Apoproteins A-I and A-II are not synthesised (D) Plasma HDL is increased

Last Answer : Answer : D

Complete absence of hypoxanthine guanine phospharibosyl transferase causes (A) Primary gout (B) Immunodeficiency (C) Uric acid stones (D) Lesh-Nyhan syndrome

Description : Complete absence of hypoxanthine guanine phospharibosyl transferase causes (A) Primary gout (B) Immunodeficiency (C) Uric acid stones (D) Lesh-Nyhan syndrome

Last Answer : Answer : D

All the following statements about xeroderma pigmentosum are true except (A) It is a genetic disease (B) Its inheritance is autosomal dominant (C) uvr ABC excinuclease is defective in this disease (D) It results in multiple skin cancers

Description : All the following statements about xeroderma pigmentosum are true except (A) It is a genetic disease (B) Its inheritance is autosomal dominant (C) uvr ABC excinuclease is defective in this disease (D) It results in multiple skin cancers

Last Answer : Answer : B

Which of the following is a characteristic feature of familial hypercholesterolaemia? 1) Autosomal dominant inheritance 2) elevated chylomicrons 3) hypertriglyceridaemia 4) increased expression of LDL receptors 5) Palmar xanthomas

Description : Which of the following is a characteristic feature of familial hypercholesterolaemia? 1) Autosomal dominant inheritance 2) elevated chylomicrons 3) hypertriglyceridaemia 4) increased expression of LDL receptors 5) Palmar xanthomas

Last Answer : Answers-1 Familial hypercholesterolaemia is an autosomal dominant condition manifest by increased LDL concentrations (not chylomicrons) due to constitutional abnormalities and reduced numbers of ... are characteristic and the condition is associated with a premature cardiovascular mortality.

Which of the following is a characteristic feature of familial hypercholesterolaemia? 1) Autosomal dominant inheritance 2) elevated chylomicrons 3) hypertriglyceridaemia 4) increased expression of LDL receptors 5) Palmar xanthomas

Description : Which of the following is a characteristic feature of familial hypercholesterolaemia? 1) Autosomal dominant inheritance 2) elevated chylomicrons 3) hypertriglyceridaemia 4) increased expression of LDL receptors 5) Palmar xanthomas

Last Answer : Answers-1 Familial hypercholesterolaemia is an autosomal dominant condition manifest by increased LDL concentrations (not chylomicrons) due to constitutional abnormalities and reduced numbers of ... are characteristic and the condition is associated with a premature cardiovascular mortality.

Inheritance of primary gout is (A) Autosomal recessive (B) Autosomal dominant (C) X-linked recessive (D) X-linked dominant

Description : Inheritance of primary gout is (A) Autosomal recessive (B) Autosomal dominant (C) X-linked recessive (D) X-linked dominant

Last Answer : Answer : C

Which of the following is a characteristic feature of acute intermittent porphyria? 1) autosomal recessive inheritance 2) excessive faecal protoporphyrin excretion 3) excessive urinary porphobilinigoen between acute attacks 4) hypernatraemia during attacks 5) photosensitivity

Description : Which of the following is a characteristic feature of acute intermittent porphyria? 1) autosomal recessive inheritance 2) excessive faecal protoporphyrin excretion 3) excessive urinary porphobilinigoen between acute attacks 4) hypernatraemia during attacks 5) photosensitivity

Last Answer : Answers-3 Features of acute intermittent porphyria include urinary porphobilinogen excretion raised between attacks, hyponatraemia during an acute attack and autosomal dominant inheritance.

All of the following can occur in LeschNyhan syndrome except (A) Gouty arthritis (B) Uric acid stones (C) Retarted growth (D) Self-mutiliating behaviour

Description : All of the following can occur in LeschNyhan syndrome except (A) Gouty arthritis (B) Uric acid stones (C) Retarted growth (D) Self-mutiliating behaviour

Last Answer : Answer : C

An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase

Description : An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase

Last Answer : Answer : B

How is analyzing the inheritance patterns of sickle cell disease through pedigrees allowed scientists to determine that the disease is autosomal recessive?

Description : How is analyzing the inheritance patterns of sickle cell disease through pedigrees allowed scientists to determine that the disease is autosomal recessive?

Last Answer : Feel Free to Answer

What type of inheritance pattern (are the A and B alleles to each other (Autosomal dominant-Regular dominant-recessive relationship, X linked, co-dominant, incomplete dominant)?

Description : What type of inheritance pattern (are the A and B alleles to each other (Autosomal dominant-Regular dominant-recessive relationship, X linked, co-dominant, incomplete dominant)?

Last Answer : Incomplete dominance

In autosomal recessive inheritance: a. the rarer the trait the higher the possibility of marriages within the same family b. most recessive gene defects cause problem through failure to produce functional protein c. both males and females are affected equally severely d. all above

Description : In autosomal recessive inheritance: a. the rarer the trait the higher the possibility of marriages within the same family b. most recessive gene defects cause problem through failure to produce functional protein c. both males and females are affected equally severely d. all above

Last Answer : all above

A man and a woman, who do not show any apparent signs of a certain inherited disease, have seven children (2 daughters and 5 sons). Three of the sons suffer from the given disease but none of the daughters affected. Which of the following mode of inheritance do you suggest for this disease? (a) Sex-linked dominant (b) Sex-linked recessive (c) Sex-limited recessive (d) Autosomal dominant

Description : A man and a woman, who do not show any apparent signs of a certain inherited disease, have seven children (2 daughters and 5 sons). Three of the sons suffer from the given disease but none ... ? (a) Sex-linked dominant (b) Sex-linked recessive (c) Sex-limited recessive (d) Autosomal dominant

Last Answer : (b) Sex-linked recessive

Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is not possible. (c) Inheritance of a recessive sex-linked disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria

Description : Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is ... disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria

Last Answer : (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait.

Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern? a) Automosomal dominant inheritance An individual who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome of a pair. b) Automosomal recessive inheritance The pattern of inheritance in autosomal recessive inherited conditions is different from that of autosomal dominant inherited conditions in that it is more horizontal than vertical, with relatives of a single generation tending to have the condition. c) X-linked inheritance X-linked conditions may be inherited in families in recessive or dominant patterns.

Description : Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern? a) Automosomal dominant inheritance An individual who has an autosomal dominant ... that combine during early embryonic development leading to incomplete closure of the neural tube.

Last Answer : a) Automosomal dominant inheritance An individual who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome of a pair.

All the following statements about cystic fibrosis are correct except (A) It is inherited as an autosomal recessive disease (B) It affects a number of exocrine glands (C) It causes increased sweating (D) Sweat chlorides are above 60 mEq/L in this disease

Description : All the following statements about cystic fibrosis are correct except (A) It is inherited as an autosomal recessive disease (B) It affects a number of exocrine glands (C) It causes increased sweating (D) Sweat chlorides are above 60 mEq/L in this disease

Last Answer : Answer : C

Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down’s syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X-linked recessive gene disorder. (a) (1), (3) and (4) are correct. (b) (1), (2) and (3) are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.

Description : Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down's syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X- ... are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.

Last Answer : (b) (1), (2) and (3) are correct.

All the following statements about primary gout are true except (A) Its inheritance is X-linked recessive (B) It can be due to increased activity of PRPP synthetase (C) It can be due to increased activity of hypoxanthine guanine phosphoribosyl transferase (D) De novo synthesis of purines is increased in it

Description : All the following statements about primary gout are true except (A) Its inheritance is X-linked recessive (B) It can be due to increased activity of PRPP synthetase (C) It can be ... activity of hypoxanthine guanine phosphoribosyl transferase (D) De novo synthesis of purines is increased in it

Last Answer : Answer : C

A genetically diseased father (male) marries with a normal female and gives birth to 3 carrier girls and 5 normal sons. It may be which type of genetic disease? (a) Sex-influenced disease (b) Blood group inheritance disease (c) Sex-linked disease (d) Sex-recessive disease

Description : A genetically diseased father (male) marries with a normal female and gives birth to 3 carrier girls and 5 normal sons. It may be which type of genetic disease? (a) Sex-influenced disease (b) Blood group inheritance disease (c) Sex-linked disease (d) Sex-recessive disease

Last Answer : (c) Sex-linked disease

Which one is the incorrect statement with regard to the importance of pedigree analysis? (a) It confirms that DNA is the carrier of genetic information. (b) It helps to understand whether the trait in question is dominant or recessive. (c) It confirms that the trait is linked to one of the autosome. (d) It helps to trace the inheritance of a specific trait.

Description : Which one is the incorrect statement with regard to the importance of pedigree analysis? (a) It confirms that DNA is the carrier of genetic information. (b) It helps to understand whether the trait in ... linked to one of the autosome. (d) It helps to trace the inheritance of a specific trait.

Last Answer : (a) It confirms that DNA is the carrier of genetic information.

A true breeding plant is (a) one that is able to breed on its own (b) produced due to cross-pollination among unrelated plants (c) near homozygous and produces offspring of its own kind (d) always homozygous recessive in its genetic constitution.

Description : A true breeding plant is (a) one that is able to breed on its own (b) produced due to cross-pollination among unrelated plants (c) near homozygous and produces offspring of its own kind (d) always homozygous recessive in its genetic constitution.

Last Answer : c) near homozygous and produces offspring of its own kind

Which of the following statement(s) is/are true concerning hemophilia A? a. Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII b. A positive family history for bleeding disorders present in all patients c. Laboratory tests reveal a prolongation of aPTT, prothrombin time (PT), thrombin clotting time and platelet aggregation d. Spontaneous bleeding is unusual with factor VIII levels greater than 10% of normal

Description : Which of the following statement(s) is/are true concerning hemophilia A? a. Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII b. A positive family history for ... platelet aggregation d. Spontaneous bleeding is unusual with factor VIII levels greater than 10% of normal

Last Answer : Answer: a, d Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII although 0% of cases are secondary to spontaneous mutation. The incidence of this abnormality is ... factor levels as low as 1% have been noted and patients are at risk for spontaneous bleeding

Down Syndrome, a congenital genetic disorder in human beings, is cased by : (a) a defective recessive gene in homozygous condition (b) an extra x chromosome (c) trisomy of chromosome 18 (d) trisomy of chromosome 21

Description : Down Syndrome, a congenital genetic disorder in human beings, is cased by : (a) a defective recessive gene in homozygous condition (b) an extra x chromosome (c) trisomy of chromosome 18 (d) trisomy of chromosome 21

Last Answer : Ans:(d)

Non-protein nitrogenous substances in blood include all of the following except (A) Urea (B) Uric acid (C) Creatinine (D) Inositol

Description : Non-protein nitrogenous substances in blood include all of the following except (A) Urea (B) Uric acid (C) Creatinine (D) Inositol

Last Answer : Answer : C

Autosomal recessive?

Description : Autosomal recessive?

Last Answer : DefinitionAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.An autosomal recessive disorder means two copies of an abnormal gene must be ... be defective to cause disease. People with only one defective gene in the pair are considered

Albinism is known to be due to an autosomal recessive mutation. The first child of a couple with normal skin pigmentation was an albino. What is the probability that their second child will also be an albino? (a) 50% (b) 75% (c) 100% (d) 25%

Description : Albinism is known to be due to an autosomal recessive mutation. The first child of a couple with normal skin pigmentation was an albino. What is the probability that their second child will also be an albino? (a) 50% (b) 75% (c) 100% (d) 25%

Last Answer : (d) 25%

.A diseased man marries a normal woman. They get three daughters and five sons. All the daughters were diseased and sons were normal. The gene of this disease is (a) sex linked dominant (b) sex linked recessive (c) sex limited character (d) autosomal dominant.

Description : .A diseased man marries a normal woman. They get three daughters and five sons. All the daughters were diseased and sons were normal. The gene of this disease is (a) sex linked dominant (b) sex linked recessive (c) sex limited character (d) autosomal dominant.

Last Answer : (a) sex linked dominant

If both parents are carriers for thalassaemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child? (a) 25% (b) 100% (c) No chance (d) 50%

Description : If both parents are carriers for thalassaemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child? (a) 25% (b) 100% (c) No chance (d) 50%

Last Answer : 25%

n the following human pedigree, the filled symbols represent the affected individuals. Identify the type of given pedigree. (i) (ii) (iii) (iv) (a) Autosomal recessive (b) X-linked dominant (c) Autosomal dominant (d) X-linked recessive

Description : n the following human pedigree, the filled symbols represent the affected individuals. Identify the type of given pedigree. (i) (ii) (iii) (iv) (a) Autosomal recessive (b) X-linked dominant (c) Autosomal dominant (d) X-linked recessive

Last Answer : (a) Autosomal recessive

Select the correct match. (a) Haemophilia – Y linked (b) Phenylketonuria – Autosomal dominant trait(c) Sickle cell anaemia – Autosomal recessive trait,chromosome -11 (d) Thalassemia – X linked

Description : Select the correct match. (a) Haemophilia – Y linked (b) Phenylketonuria – Autosomal dominant trait (c) Sickle cell anaemia – Autosomal recessive trait,chromosome -11 (d) Thalassemia – X linked

Last Answer : (c) Sickle cell anaemia – Autosomal recessive trait,chromosome -11

Ataxia is the term that refers to a) uncoordinated muscle movement. Ataxia-telangiectasia is an autosomal recessive disorder affecting both T-cell and B-cell immunity.

Description : Ataxia is the term that refers to a) uncoordinated muscle movement. Ataxia-telangiectasia is an autosomal recessive disorder affecting both T-cell and B-cell immunity. b) vascular lesions ... to understand the spoken word. d) difficulty swallowing. Dysphagia refers to difficulty swallowing.

Last Answer : a) uncoordinated muscle movement. Ataxia-telangiectasia is an autosomal recessive disorder affecting both T-cell and B-cell immunity.

All of the following statements about allopurinol are true except (A) It is a structural analogue of uric acid (B) It can prevent uric acid stones in the kidneys (C) It increases the urinary excretion of xanthine and hypoxanthine (D) It is a competitive inhibitor of xanthine oxidase

Description : All of the following statements about allopurinol are true except (A) It is a structural analogue of uric acid (B) It can prevent uric acid stones in the kidneys (C) It increases the urinary excretion of xanthine and hypoxanthine (D) It is a competitive inhibitor of xanthine oxidase

Last Answer : Answer : A

All of the following statements about primary gout are true except (A) Uric acid stones may be formed in kidneys (B) Arthritis of small joints occurs commonly (C) Urinary excretion of uric acid is decreased (D) It occurs predominantly in males

Description : All of the following statements about primary gout are true except (A) Uric acid stones may be formed in kidneys (B) Arthritis of small joints occurs commonly (C) Urinary excretion of uric acid is decreased (D) It occurs predominantly in males

Last Answer : Answer : C

All of the following statements about uric acid are true except (A) It can be formed from allantoin (B) Formation of uric acid stones in kidneys can be decreased by alkalinisation of urine (C) Uric acid begins to dissociate at pH above 5.8 (D) It is present in plasma mainly as monosodium urate

Description : All of the following statements about uric acid are true except (A) It can be formed from allantoin (B) Formation of uric acid stones in kidneys can be decreased by alkalinisation of urine (C) Uric acid begins to dissociate at pH above 5.8 (D) It is present in plasma mainly as monosodium urate

Last Answer : Answer : A

All of the following statements about uric acid are true except (A) It is a catabolite of purines (B) It is excreted by the kidneys (C) It is undissociated at pH above 5.8 (D) It is less soluble than sodium urate

Description : All of the following statements about uric acid are true except (A) It is a catabolite of purines (B) It is excreted by the kidneys (C) It is undissociated at pH above 5.8 (D) It is less soluble than sodium urate

Last Answer : Answer : C

Which of the following enzyme typically elevated in alcoholism? (A) Serum ALP (B) Serum GOT (C) Serum γ-GT (D) Serum acid phosphatase

Description : Which of the following enzyme typically elevated in alcoholism? (A) Serum ALP (B) Serum GOT (C) Serum γ-GT (D) Serum acid phosphatase

Last Answer : Answer : C

In inherited deficiency of hypoxanthine guanine phosphoribosyl transferase (A) De novo synthesis of purine nucleotides is decreased (B) Salvage of purines is decreased (C) Salvage of purines is increased (D) Synthesis of uric acid is decreased

Description : In inherited deficiency of hypoxanthine guanine phosphoribosyl transferase (A) De novo synthesis of purine nucleotides is decreased (B) Salvage of purines is decreased (C) Salvage of purines is increased (D) Synthesis of uric acid is decreased

Last Answer : Answer : B

Gout is characterized by increased plasma levels of (A) Urea (B) Uric acid (C) Creatine (D) Creatinine

Description : Gout is characterized by increased plasma levels of (A) Urea (B) Uric acid (C) Creatine (D) Creatinine

Last Answer : Answer : B

What is an autosomal dominant pattern of inheritance?

Description : What is an autosomal dominant pattern of inheritance?

Last Answer : Need answer

A drug which prevents uric acid synthesis by inhibiting the enzyme Xanthine oxidase is (A) Aspirin (B) Allopurinal (C) Colchicine (D) Phenyl benzoate

Description : A drug which prevents uric acid synthesis by inhibiting the enzyme Xanthine oxidase is (A) Aspirin (B) Allopurinal (C) Colchicine (D) Phenyl benzoate

Last Answer : Answer : B

In humans purine are catabolised to uric acid due to lack of the enzyme: (A) Urease (B) Uricase (C) Xanthine oxidase (D) Guanase

Description : In humans purine are catabolised to uric acid due to lack of the enzyme: (A) Urease (B) Uricase (C) Xanthine oxidase (D) Guanase

Last Answer : Answer : B

Schardinger’s enzyme is (A) Lactate dehydrogenase (B) Xanthine dehydrogenase (C) Uric oxidase (D) L amino acid dehydrogenase

Description : Schardinger’s enzyme is (A) Lactate dehydrogenase (B) Xanthine dehydrogenase (C) Uric oxidase (D) L amino acid dehydrogenase

Last Answer : Answer : B

A drug which prevents uric acid synthesis by inhibiting the enzyme xanthine oxidase is (A) Aspirin (B) Allopurinol (C) Colchicine (D) Probenecid

Description : A drug which prevents uric acid synthesis by inhibiting the enzyme xanthine oxidase is (A) Aspirin (B) Allopurinol (C) Colchicine (D) Probenecid

Last Answer : B

All of the following are true of Wilson’s disease except (A) Low total plasma Cu (B) Elevated urinary copper (C) Arthritis (D) Aminoaciduria

Description : All of the following are true of Wilson’s disease except (A) Low total plasma Cu (B) Elevated urinary copper (C) Arthritis (D) Aminoaciduria

Last Answer : Answer : C

Inherited deficiency of enzyme cerebrosidase produces (A) Fabry’s disease (B) Niemann pick disease (C) Gaucher’s disease (D) Tay-sach’s disease

Description : Inherited deficiency of enzyme cerebrosidase produces (A) Fabry’s disease (B) Niemann pick disease (C) Gaucher’s disease (D) Tay-sach’s disease

Last Answer : Answer : C