The predominant inheritance pattern for ß-thalassemia major and intermedia are i

Question

1. The predominant inheritance pattern for ß-thalassemia major and intermedia are inherited in an autosomal recessive pattern. List the individuals in Tazswana’s pedigree chart who are carriers for ß-thalassemia. (Note: assume Tazswana is the only family member with symptoms.)
2. List the individuals in the chart who are indicated as heterozygous for the ß-globin gene. Explain your answers. (Note: heterozygous = more than one type of allele; “wild-type” is a normal allele; each type of mutation is an allele. Terms to learn: heterozygote, compound heterozygote (two mutant alleles).)
3. Explain why only Tazswana has the disease.
4. Speculate on why a mutation in the non-coding, intron region of the ß-globin gene could produce a defective ß-globin protein.

1. The predominant inheritance pattern for ß-thalassemia major and intermedia are inherited in an autosomal recessive pattern. List the individuals in Tazswana’s pedigree chart who are carriers for ß-thalassemia. (Note: assume Tazswana is the only family member with symptoms.)
2. List the individuals in the chart who are indicated as heterozygous for the ß-globin gene. Explain your answers. (Note: heterozygous = more than one type of allele; “wild-type” is a normal allele; each type of mutation is an allele. Terms to learn: heterozygote, compound heterozygote (two mutant alleles).)
3. Explain why only Tazswana has the disease.
4. Speculate on why a mutation in the non-coding, intron region of the ß-globin gene could produce a defective ß-globin protein.

Explanation / Answer

1. Carriers of ß-thalassemia are grandfather, grandmother, father and mother, All are carrying one allele for thalassemia. 2. Heterozygous for ß-globin gene are Tazswana. 3. Only Tazswana has disease because thalasesemia is an autosomal recessive disorder, in which both alleles are affected. 4. Globin gene consists of 2 introns and 3 exons. The introns are spliced during expression at correct position to produce functional genes. If mutation occurs in intron, it affects the gene.

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