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Biochemistry General 8ca523a2

All of the following statements about sickle cell disease are true, EXCEPT:

A
Point mutation results in change of Glutamic acid to Valine
B
RFLP results from a single base change
C
Sticky patch' is generated as a result of replacement of a non polar residue with a polar residue
D
HbS confers resistance against malaria in heterozygous individual
High-Yield Explanation
In sickle cell disease glutamic acid is replaced by valine at the 6th position of the beta chain. This substitution replaces a polar glutamate residue with a non polar valine residue. As a result of this replacement a sticky patch is generated on the surface of the beta chain. This hydrophobic patch provides a surface that complements another surface feature of hemoglobin present only in the deoxygenated form. As a result, HbS in the deoxy form polymerises, forming long fibrous precipitates in the rbc. RBC distos taking on a sickle shape, and is vulnerable to lysis as it penetrates the interstices of splenic sinusoids. Ref: Medical Biochemistry: Pearls of Wisdom By Duane C. Eichler, Page 44 ; Lecture Notes on Clinical Biochemistry By Alistair Fairley Smith, Page 273 ; Human Heredity: Principles and Issues By Michael R. Cummings, Page 471

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