Question 1

A child presents with respiratory distress and failure to thrive. His sweat chloride levels were estimated 35 meq/L and 41 meq/L. What is next best test to do cystic fibrosis for diagnosis:

Accepted Answer

Answer reason: Borderline or elevated sweat chloride levels raise suspicion for cystic fibrosis, and confirming the diagnosis requires identifying a CFTR gene mutation. Testing for the common F508 mutation provides definitive genetic confirmation.

Question 2

The genetic information is stored in?

Accepted Answer

Answer reason: DNA is the primary hereditary material that stores and transmits genetic information in cells; RNA mainly functions in the expression of that information.

Question 3

How many pairs of chromosomes do humans have?

Accepted Answer

Answer reason: Humans have 46 chromosomes arranged as 23 homologous pairs.

Question 4

A female presents with karyotype 45,XO and absent gonads. What is your diagnosis?

Accepted Answer

Answer reason: Karyotype 45,X is diagnostic of Turner syndrome, which presents with streak (functionally absent) gonads.

Question 5

Which of the following is a genetic disorder?

Accepted Answer

Answer reason: Sickle cell anemia is caused by an inherited mutation in the beta-globin gene (HBB), making it a classic Mendelian genetic disorder.

Question 6

DNA is located in the?

Accepted Answer

Answer reason: The cell’s primary genetic material is stored in the nucleus; the acrosome contains enzymes, the centriole organizes microtubules, and mitochondria mainly produce ATP though they contain only small amounts of mtDNA.

Question 7

Down's syndrome is also known as, except?

Accepted Answer

Answer reason: Down syndrome is synonymous with Trisomy 21, Trisomy G (older classification), and historically with Mongolism. Cretinism refers to congenital hypothyroidism, not Down syndrome.

Question 8

All are autosomal recessive diseases except?

Accepted Answer

Answer reason: Marfan syndrome is inherited in an autosomal dominant pattern, whereas phenylketonuria, sickle cell anemia, and Wilson disease are autosomal recessive.

Question 9

Why do hemophilia A and B mostly affect males?

Accepted Answer

Answer reason: Hemophilia A and B are X-linked recessive disorders. Males have only one X chromosome, so a single mutated allele results in disease, whereas females are typically carriers unless both X chromosomes carry the mutation.

Question 10

Cystic fibrosis is an autosomal recessive genetic disorder. Which option below best describes what most likely happens for a child to develop this condition?

Accepted Answer

Answer reason: Autosomal recessive disorders require two mutated alleles—one inherited from each parent—who are typically asymptomatic carriers.

Question 11

Which of the following statements about cystic fibrosis (CF) is not true?

Accepted Answer

Answer reason: CF results from mutations in the CFTR gene causing defective chloride (and bicarbonate) channel function, not calcium transport. The disease is autosomal recessive and the CFTR protein is 1,480 amino acids long.

Question 12

A female carrier of the hemophilia A allele marries a male who is not a hemophiliac. What are the odds of being a hemophiliac for each of their children?

Accepted Answer

Answer reason: Hemophilia A is X-linked recessive. A carrier mother (XHXh) and unaffected father (XHY) have sons with a 50% chance of receiving the affected Xh and being hemophiliac; daughters receive the father’s normal XH, so none are affected though 50% are carriers.

Question 13

Which is NOT true about haemophilia?

Accepted Answer

Answer reason: Hemophilia is an X-linked recessive bleeding disorder, known as 'bleeder’s disease' and 'royal disease.' It is not Y-linked.

Question 14

A defect in a gene that makes the protein cystic fibrosis transmembrane regulator is the cause of CF. According to recent research, this problem causes an imbalance of which key substance in the body?

Accepted Answer

Answer reason: CFTR gene mutations disrupt lipid metabolism leading to an essential fatty acid imbalance noted in CF patients; not hormones, glucose, or general carbohydrates.

Question 15

Which among the following can be seen in a partial mole? [AIIMS Raipur Grade-II 2017]?

Accepted Answer

Answer reason: Partial hydatidiform moles typically have a diandric triploid karyotype (69,XXX/XXY), unlike complete moles which are diploid.

Question 16

What is the full form of DNA?

Accepted Answer

Answer reason: DNA stands for deoxyribonucleic acid; among the choices, 'Deoxyribo Nucleic Acid' is the correct expansion.

Question 17

Brushfields spots, protruded tongue and single palmar crease are characteristic features of?

Accepted Answer

Answer reason: Brushfield spots on the iris, protruding tongue from hypotonia/macroglossia, and a single transverse palmar crease are classic phenotypic features of trisomy 21 (Down syndrome).

Question 18

What is a common early sign of Down syndrome in infants?

Accepted Answer

Answer reason: Infants with Down syndrome commonly present with decreased muscle tone (hypotonia). Hypertonia and spasticity indicate increased tone, which is not typical. "Delayed reflexes" is nonspecific compared with characteristic hypotonia.

Question 19

Which statement is NOT correct about Lamarckism?

Accepted Answer

Answer reason: Struggle for existence is a Darwinian concept, not part of Lamarckism. Lamarckism emphasizes use and disuse and inheritance of acquired traits.

Question 20

What determines male sex in humans?

Accepted Answer

Answer reason: Male sex is determined by the presence of the Y chromosome, specifically the SRY gene on Y that initiates testis development and male phenotype.

Question 21

Which fetal disorder is most likely given a maternal quad screen at 18 weeks showing AFP 0.5 MoM, estriol 0.6 MoM, hCG 2.0 MoM, and inhibin 1.8 MoM?

Accepted Answer

Answer reason: Quad screen pattern of low AFP and estriol with elevated hCG and inhibin A is characteristic of Down syndrome (Trisomy 21).

Question 22

Which statement made by the nurse describes the inheritance pattern of autosomal recessive disorders?

Accepted Answer

Answer reason: Autosomal recessive conditions typically occur when both parents are unaffected carriers; two carrier parents have a 25% chance of an affected child. Statements about affected parents producing carriers or a 1-in-4 risk are incorrect for recessive inheritance.

Question 23

The nurse is caring for a child with Down syndrome. Which characteristics are commonly found in the child with Down syndrome?

Accepted Answer

Answer reason: Down syndrome commonly presents with epicanthic folds, a single transverse (simian) palmar crease, and broad short hands. The other options describe features of osteogenesis imperfecta (A), Turner syndrome (C), and Tay-Sachs disease (D).

Question 24

The cell division in which the number of chromosomes remain constant in the daughter cell is?

Accepted Answer

Answer reason: Mitosis produces daughter cells with the same chromosome number as the parent cell, whereas meiosis halves it.

Question 25

Genetic information of nuclear DNA is transmitted to the site of protein synthesis?

Accepted Answer

Answer reason: Messenger RNA carries the genetic code transcribed from nuclear DNA to ribosomes for translation; rRNA forms ribosomal structure, tRNA carries amino acids, and polysomes are ribosome clusters.

Question 26

How many chromosomes are in a typical human cell?

Accepted Answer

Answer reason: Human somatic cells are diploid with 23 pairs of chromosomes, totaling 46.

Question 27

What is the procedure called in which a piece of DNA is introduced into a host bacterium?

Accepted Answer

Answer reason: Introducing foreign DNA into bacteria is called transformation. Cloning refers to propagating DNA or cells, PCR amplifies DNA in vitro, and clonal selection pertains to immunology.

Question 28

Which chromosome pair represents a female?

Accepted Answer

Answer reason: Humans with two X chromosomes are female (XX); males are XY. YY and YX do not represent normal female karyotypes.

Question 29

What is the diagnosis?

Accepted Answer

Answer reason: Patau syndrome (trisomy 13) is the chromosomal disorder classically diagnosed in neonates with severe midline defects such as holoprosencephaly, cleft lip/palate, microphthalmia, polydactyly, and rocker-bottom feet—distinguishing it from Down (21), Edwards (18), and Marfan.

Question 30

A maternal quad screen at 18 weeks shows AFP 0.5 MoM, estriol 0.6 MoM, hCG 2.0 MoM, and inhibin 1.8 MoM; which fetal disorder is most likely?

Accepted Answer

Answer reason: Quad screen pattern of decreased AFP and estriol with increased hCG and inhibin A is classic for Down syndrome (trisomy 21).

Question 31

The mother of a male child with cystic fibrosis tells the nurse that she hopes her son's children won't have the disease. The nurse is aware that?

Accepted Answer

Answer reason: Cystic fibrosis is an autosomal recessive disorder; most males with CF are infertile due to congenital absence of the vas deferens, making natural paternity unlikely. Thus statements about specific inheritance risks for his children are less relevant.

Question 32

Parents of a toddler are dismayed when they learn that their child has Duchenne's muscular dystrophy. Which statement describes the inheritance pattern of the disorder?

Accepted Answer

Answer reason: Duchenne muscular dystrophy is an X-linked recessive disorder caused by mutations in the dystrophin gene on the X chromosome; affected boys inherit the pathogenic X from a carrier mother. Options A, B, and C describe autosomal, chromosomal replication, or Y-linked patterns, which are incorrect.

Question 33

The gene for eye color is located on which chromosomes?

Accepted Answer

Answer reason: Major eye color genes (e.g., OCA2 and HERC2) are located on autosomes, especially chromosome 15, not on the X or Y chromosomes.

Question 34

How many pairs of chromosomes are present in a normal human cell?

Accepted Answer

Answer reason: Humans have 46 chromosomes arranged in 23 homologous pairs (22 autosome pairs plus 1 pair of sex chromosomes).

Question 35

Many infants with atrioventricular canal also have a diagnosis of which of the following?

Accepted Answer

Answer reason: Atrioventricular canal (endocardial cushion) defects are classically associated with Down syndrome (Trisomy 21).

Question 36

Which of the following is the basic unit of heredity?

Accepted Answer

Answer reason: A gene is the fundamental unit of heredity; chromosomes contain many genes, while the nucleus and ribosome are cellular structures not units of heredity.

Question 37

What is the form in which chromosomes bear hereditary characters?

Accepted Answer

Answer reason: Chromosomes carry hereditary information organized into genes, which encode traits.

Question 38

Where is DNA found in the cell?

Accepted Answer

Answer reason: Eukaryotic cells contain DNA in the nucleus and mitochondria; plant cells also have chloroplast DNA, so all listed locations contain DNA.

Question 39

Which of the following correctly describes the central dogma of molecular biology?

Accepted Answer

Answer reason: The central dogma states that genetic information flows from DNA to RNA (transcription) and from RNA to protein (translation).

Question 40

Which chromosome pair represents a female?

Accepted Answer

Answer reason: In humans, typical female sex chromosomes are XX; males are XY. YY and YX do not represent normal human karyotypes.

Question 41

Which chromosome pattern is typical for a female?

Accepted Answer

Answer reason: Humans typically have XX sex chromosomes for females; XY indicates male.

Question 42

What is the most common cause of Down's syndrome?

Accepted Answer

Answer reason: While the overall most common cause of Down syndrome is trisomy 21 due to maternal meiotic nondisjunction, among the listed choices translocation is the most frequent (≈3–4%) compared with mosaicism (~1%) and paternal nondisjunction (rare).

Question 43

Which syndrome is characterized by an infant's cry that sounds like a cat?

Accepted Answer

Answer reason: Cri du Chat syndrome (5p deletion) presents with a characteristic high-pitched, cat-like cry in infancy.

Question 44

During which stage is the pairing of homologous chromosomes completed?

Accepted Answer

Answer reason: Synapsis of homologous chromosomes begins in zygotene and is completed in pachytene, where crossing over occurs.

Question 45

When counseling parents of a child who has recently been diagnosed with hemophilia, the nurse must know that in the offspring of a normal father and a carrier mother?

Accepted Answer

Answer reason: Hemophilia A is an X-linked recessive disorder. With a normal father (XHY) and a carrier mother (XHXh), each SON has a 50% chance of inheriting the affected Xh and having the disease, and each DAUGHTER has a 50% chance of being a carrier. Therefore, the correct statement among the options is the 50% probability that sons will have the disease.

Question 46

In DNA, three hydrogen bonds are formed between?

Accepted Answer

Answer reason: In DNA base pairing, adenine pairs with thymine via two hydrogen bonds, while guanine pairs with cytosine via three hydrogen bonds.

Question 47

The complementary base of adenine in RNA is?

Accepted Answer

Answer reason: In RNA, adenine pairs with uracil; thymine is found in DNA. Therefore the complementary base to adenine in RNA is uracil.

Question 48

The number of hydrogen bonds between adenine and thymine in DNA is?

Accepted Answer

Answer reason: In DNA, adenine pairs with thymine via two hydrogen bonds; guanine pairs with cytosine via three.

Question 49

The nurse is caring for a 14 month-old just diagnosed with Cystic Fibrosis. The parents state this is the first child in either family with this disease, and ask about the risk to future children. The BEST response by the nurse is based on the knowledge that there is a?

Accepted Answer

Answer reason: Cystic fibrosis is autosomal recessive. With two carrier parents, each pregnancy has a 25% chance of an affected child, 50% carrier, and 25% unaffected.

Question 50

Edwards syndrome is caused by the presence of a third copy of which chromosome?

Accepted Answer

Answer reason: Edwards syndrome is trisomy 18, meaning there are three copies of chromosome 18.

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Genetics NCLEX Practice Test

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A child presents with respiratory distress and failure to thrive. His sweat chloride levels were estimated 35 meq/L and 41 meq/L. What is next best test to do cystic fibrosis for diagnosis:

The genetic information is stored in?

How many pairs of chromosomes do humans have?

A female presents with karyotype 45,XO and absent gonads. What is your diagnosis?

Which of the following is a genetic disorder?

DNA is located in the?

Down's syndrome is also known as, except?

All are autosomal recessive diseases except?

Why do hemophilia A and B mostly affect males?

Cystic fibrosis is an autosomal recessive genetic disorder. Which option below best describes what most likely happens for a child to develop this condition?

Which of the following statements about cystic fibrosis (CF) is not true?

A female carrier of the hemophilia A allele marries a male who is not a hemophiliac. What are the odds of being a hemophiliac for each of their children?

Which is NOT true about haemophilia?

A defect in a gene that makes the protein cystic fibrosis transmembrane regulator is the cause of CF. According to recent research, this problem causes an imbalance of which key substance in the body?

Which among the following can be seen in a partial mole? [AIIMS Raipur Grade-II 2017]?

What is the full form of DNA?

Brushfields spots, protruded tongue and single palmar crease are characteristic features of?

What is a common early sign of Down syndrome in infants?

Which statement is NOT correct about Lamarckism?

What determines male sex in humans?

Which fetal disorder is most likely given a maternal quad screen at 18 weeks showing AFP 0.5 MoM, estriol 0.6 MoM, hCG 2.0 MoM, and inhibin 1.8 MoM?

Which statement made by the nurse describes the inheritance pattern of autosomal recessive disorders?

The nurse is caring for a child with Down syndrome. Which characteristics are commonly found in the child with Down syndrome?

The cell division in which the number of chromosomes remain constant in the daughter cell is?

Genetic information of nuclear DNA is transmitted to the site of protein synthesis?

How many chromosomes are in a typical human cell?

What is the procedure called in which a piece of DNA is introduced into a host bacterium?

Which chromosome pair represents a female?

What is the diagnosis?

A maternal quad screen at 18 weeks shows AFP 0.5 MoM, estriol 0.6 MoM, hCG 2.0 MoM, and inhibin 1.8 MoM; which fetal disorder is most likely?

The mother of a male child with cystic fibrosis tells the nurse that she hopes her son's children won't have the disease. The nurse is aware that?

Parents of a toddler are dismayed when they learn that their child has Duchenne's muscular dystrophy. Which statement describes the inheritance pattern of the disorder?

The gene for eye color is located on which chromosomes?

How many pairs of chromosomes are present in a normal human cell?

Many infants with atrioventricular canal also have a diagnosis of which of the following?

Which of the following is the basic unit of heredity?

What is the form in which chromosomes bear hereditary characters?

Where is DNA found in the cell?

Which of the following correctly describes the central dogma of molecular biology?

Which chromosome pair represents a female?

Which chromosome pattern is typical for a female?

What is the most common cause of Down's syndrome?

Which syndrome is characterized by an infant's cry that sounds like a cat?

During which stage is the pairing of homologous chromosomes completed?

When counseling parents of a child who has recently been diagnosed with hemophilia, the nurse must know that in the offspring of a normal father and a carrier mother?

In DNA, three hydrogen bonds are formed between?

The complementary base of adenine in RNA is?

The number of hydrogen bonds between adenine and thymine in DNA is?

The nurse is caring for a 14 month-old just diagnosed with Cystic Fibrosis. The parents state this is the first child in either family with this disease, and ask about the risk to future children. The BEST response by the nurse is based on the knowledge that there is a?

Edwards syndrome is caused by the presence of a third copy of which chromosome?

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