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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Beta globin gene sequencing: Family study

Beta globin gene sequencing: Family study
Sequencing of the beta-globin gene from: (A) Father with beta thalassemia trait due to the insertion of a G between codons 8 and 9 resulting in a frameshift and premature termination; (B) Mother with heterozygous Hb D Iran (beta22 Glu→Gln), resulting from a GAA→CAA mutation in codon 22. This couple had a child with Hb D-Iran-beta0 thalassemia who presented with moderate hypochromic microcytic anemia and hence was referred for consultation.
The downward arrows indicate the first nucleotide after the insertion of a "G". This disrupts the reading frame of the rest of the beta globin gene as can be seen in the garbled sequence (peaks of various colors on top of each other), which results from the frameshift on the mutated allele and the continued normal sequence on the other allele. The bracket underneath shows the start of the frameshift. "N" indicates any nucleotide that the system is unable to clearly identify and read as a "C" (blue), "T" (red), "G" (black), and "A" (green). Since the sequence to the right of the arrow (insertion of "G") is frameshifted and difficult to read, there are a lot of "N"s. The normal pattern should be like Part B of the graph where the sequence can be read clearly and nucleotides clearly identified except for where pointed by the arrow, which denotes the mutation. Instead of a normal "G" that should be in this position, there is a "C" in the mutated allele, and therefore, underneath the arrow, in addition to a "G" peak (black), you can also see a "C" (blue). This is the mutation that leads to Hb D-Iran as indicated above.
Graphic 75837 Version 3.0

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