Genetics: What is the molecular basis of Chariklia\'s disease? Why Charikla\'s f
ID: 98417 • Letter: G
Question
Genetics:
What is the molecular basis of Chariklia's disease?
Why Charikla's family history is relevant to this situation?
How many types of Thalassemia have been described and which molecular technique is useful to establish a diagnosis in these settings? (Please explain technique performed for detection of genetic disease.
CASE 3 Charikla, a both parents asymptomatic newborn female of Greek ancestry, had a haemoglobin analysis done since were diagnosed with heterozygous B-thalassemia. She was subsequently Kanosed with thalassemia major. Until school age, Chariklia remained homozygous ic; with Hb values of 8 to 9 g/dL, she did not need a transfusion, and her physical development was normal. At the age of 8 years, however, Chariklia was seen In the haematology clinic because she had been suffering from worsening anaemia as well as hepatosplenomegaly . and jaundiceThe CBC was significant for hypochromic, microcytic anaemia, Haemoglobin 6.9g/dL, and haematocrit 22%. Radiography revealed typical bone caused by the skull changes increased haematopoiesis in and long bones.Explanation / Answer
Answer :- The molecular basis of he heerozgouse halasemmia is he muttattion in the DNA structure which is responsible of the disease related ttto hemeglobin. The disease caused due tto the frameshiftt mutation in the DNA bases and also the unequal crossing overs does cause these diseases.
2) Charikla's family history is important to diagnose the disease in Charilika because the disease is related to the gene. The Charilika's family history charrt or pedigree analysis reveals the nature and the transfer of the heterozygous Beta- thalasemmia in the family. This family pedigree analysis will help in the determination of the disease, is it inheritted tto Charilika or not. That is why the familyy history is relevant with the Charilika's situattion.
3)There are two type of Thalasemmia(Alpha and Beta) the both tyypes are related to the mutattion in the globin gene which results into the the haemeglobin and its regulation. The mutation results into the lackk of haemoglobin, which in result into the lack of oxygen in many body parts.
There are several ttechniques which are useful and are used in the identificattion of this disease, The tttechniques are listed :-Gap-PCR, MLPA, ASO, RE, DGGE, Sanger sequencing, ARMS, RE-PCR, RDB.
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