Sickle-cell anaemia: This is an autosome linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier for the gene (or heterozygous). The disease is controlled by a single pair of allele, HbA and HbS. Out of the three possible genotypes only homozygous individuals for HbS (HbSHbS) show the diseased phenotype. Heterozygous (HbAHbS) individuals appear apparently unaffected but they are carrier of the disease as there is 50 per cent probability of transmission of the mutant gene to the progeny, thus exhibiting sickle-cell trait. The defect is caused by the substitution of Glutamic acid
NTA tests whether students understand that only homozygous (HbSHbS) individuals show sickle-cell disease, while heterozygous (HbAHbS) carriers appear normal but can transmit the mutant gene. The common mistake is assuming heterozygous individuals show the disease phenotype or that they have a 50% chance of getting sick themselves—they don't. What to remember: Sickle-cell is autosomal recessive, so you need two copies of HbS allele to express the disease. Heterozygous carriers have a 50% probability of passing the HbS allele to offspring, not developing symptoms. This distinction between genotype and phenotype in recessive disorders is repeatedly tested across NEET exams.
This paragraph was tested 3 times in NEET.
Which disorder is caused by substitution of Glutamic acid by Valine at the sixth position of the beta globin chain of haemoglobin?
In a cross between a male and female, both heterozygous for the sickle cell anaemia gene, what percentage of the progeny will be diseased? (NEET 2021)
Select the correctly matched pair: (NEET 2020)
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