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The ABO blood groups.

There are three main alleles in the ABO blood group system - IA, IB, and i. We've talked about the ABO system in class, you can find a brief explanation below and here.

The I gene encodes for a glycosyltransferase that modifies at the H antigen.

The glycosyltransferase encoded by IA adds an 'A' sugar group to antigen H, the glycosyltransferase encoded by IB adds a 'B' sugar group and i encodes an inactive glycosyltransferase that leaves the H antigen unmodified.

IA leads to Type A blood; IB to Type B; and ii to Type O. IA is codominant to IB and both IA and IB are dominant to i.

The H antigen itself is encoded by another gene - H. A rare mutation  leads to an absence of H antigen (i.e., the person cannot make H antigen). The loss of H antigen is recessive (hh = loss of H antigen). This (hh) is called the Bombay phenotype. Because of the loss of H antigen individuals with the Bombay phenotype appear to have Type O blood regardless of their genotype at O (why doesn't really matter but you can find out more here).

H and I are on separate chromosomes and sort independently but if an individual is hh you won't be able to tell what their ABO phenotype is (remember the glycosyltransferase encoded by I modifies the H antigen, no antigen = nothing to modify).

There is one other common blood group factor - Rh.

Rh factor is a protein that can be present or absent on red blood cell surfaces. If you're Rh- you don't have the protein on your red blood cells, if you're Rh+ you do. Rh- is recessive to Rh+.

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Use the following pedigree to answer the next set of questions

Question 15

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Which individual can you be certain has the Bombay phenotype?

Hint: look for offspring that don't make sense phenotypically based on what you know of their parents.

Select one:

a. III-3

b. II-1

c. I-2

d. II-2

e. I-3

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Question 16

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What is the genotype of II-1 at I andRh?

Select one:

a. IBi Rh+Rh-

b. IBIBRh+Rh-

c. IBIbRh+Rh-

d. You don't have enough information to tell for sure

e. IBi Rh+Rh+

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III-2 is expecting a child with III-1. III-1 has Type B blood and there is no history of the Bombay phenotype in III-1's family. If the carrier rate for the population is 1/50 what is the likelihood that their child will have the Bombay phenotype?

Select one:

a. 1/4 or 0

b. 1/4

c. 1/500

d. 1/2500

e. 1/200

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Question 18

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You now know the phenotype of III-5; she is Type O blood Rh positive.

Who do you know for certain are the carriers of the Bombay phenotype allele h (i.e., they are Hh)?

Select one or more:

a. I-3

b. III-6

c. II-2

d. I-4

e. II-1



Bombay Phenotype Questions - Pedigree (Q15-18) Type AB blood, Rh positive Type AB blood, Rh negative Type A blood, Rh negativ


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