Kathleen Swanson BIO210L Th 9-12 Pedigree Lab Summary October 9, 2013

Introduction: Pedigrees are a highly useful tool, similar to a family tree diagram, employed by geneticists in order to track single gene traits in a family lineage, to determine whether a trait is recessive or dominant (allele with a recessive trait is always masked by a dominant allele), heterozygous or homozygous (homozygous containing the same allele and heterozygous containing one recessive and one dominant allele). Pedigrees can also be used to determine if a gene is transmitted and carried on an autosomal or non sex chromosome, whether it is sexlinked (and carried on the X chromosome), as well as whether a gene is linked or unlinked. It unlinked genes there can be any combination of 2 or more traits as their genes are not bound to the same chromosome, or so far away in distance on a chromosome that crossing over can occur 50% of the time which is the same probability created by Independent Assortment. However completely linked genes, being bound to the same chromosome and in close vicinity of each other, will only travel together, reducing the number of possible gamete combinations. Pedigrees are constructed from the self-reported information of family members and are very useful to determine the predicted probability of genetic disease in future offspring.

Pedigrees hold to a uniform standard notation, allowing them to be easily read by students, geneticists or enthusiasts will little to no learning curve. Squares are always used to represent males while circles are used to represent female. Shaded shapes are used to indicate a person is showing a given trait of interest and half shaded denotes that an individual is merely a carrier but does not express the trait phenotypically. Lines are used to show the relationships between the individuals listed on the pedigree. A horizontal line indicates a marriage or union, while a vertical line indicates offspring. As seen in the diagram below a line drawn perpendicular to the line denoting a union, indicates a divorce or separation of those individuals and brackets denote an unborn baby.

Methods: This laboratory consisted of gathering information about our family and the prevalence of two single gene traits. Upon sharing of this information, each group selected two traits (tongue rolling and attached ear lobes) and the information reported by these individuals was used to construct 2 pedigrees for each selected trait. These pedigrees allowed us to quickly and easily determine the inheritance patterns and other characteristics of these single gene traits. As well as identify potential errors in self report.

Swanson Results:

Paternal Side
2 3

8 ?

10

Dad

Mom

Maternal Side

?
Dad Mom

Legend:
Unborn offspring Separated/divorced Male tongue rolling (affected) Female no tongue rolling (unaffected) Female tongue rolling affected

Male no tongue rolling (unaffected)

Figure 1: pedigree of paternal and maternal side showing affected and unaffected family members for the single gene trait, tongue rolling

The Pedigree developed for the single gene trait, tongue rolling showed high incidence for the trait, as well persistence in each generation as opposed to skipping 1 or more generations. The pedigree clearly demonstrates that the trait was passed from both mothers and fathers to offspring. The paternal lineage, brother #5 shows a male parent positive for the trait of tongue rolling, mating with an unaffected female and

Swanson both sons expressed the tongue rolling trait. Affected female #3 on the maternal side produced affected offspring, a daughter, with an unaffected male.

On the paternal side 7 of 10 offspring were shown to be affected by the tongue rolling trait and from these 10 siblings that were married and produced offspring, 16 out of 16 offspring (cousins) showed the trait tongue rolling (this excludes the 17th offspring that was reported to be unknown). 4 out of 5 offspring on the maternal side reported to have the tongue rolling trait and of these 4 affected offspring, 5 out of 5 of their children showed the trait as well (excluding the 6th and 7th children of affected off spring that were reported as unknown.

Dad

Mom

Legend:
Student female - attached ear lobes (affected) female - free ear lobes (unaffected) male attached ear lobes (affected) male free ear lobes (unaffected) monozygotic twins

Figure 2: pedigree demonstrating the inheritance pattern of the single gene trait, attached ear lobes

The pedigree constructed for the single gene trait, attached ear lobes, shows the trait for attached ear lobes was passed from mother to both son and daughter and the father was unaffected(free ear lobes). The Student, an affected female, produced off spring with an unaffected male that yielded a son who was unaffected and two daughters that were affected.

Conclusion: It was concluded that the pedigree created for Tongue rolling (Fig. 1) showed tongue rolling to be a dominant trait as it was present in all generations as is consistent with autosomal dominant traits. Autosomal traits demonstrate no preference for gender of the receiver or donor of a gene. Fig1 shows an affected father (#5) on the paternal side, with an unaffected female transmitted the tongue rolling gene to his two affected sons. Also

Swanson on the maternal side, an affected female (#3), with an unaffected male, produced a daughter who was demonstrated the tongue rolling trait. Both of these inheritance patterns show that the gene for tongue rolling must be found on an autosomal chromosome. In X-linked (sex-linked) recessive traits, in addition to skipping a generation, females typically pass the trait to their sons. In X-linked dominant traits the father will often pass the condition or trait to their female offspring.

It was clear the grand parents were either heterozygotic dominant or homozygotic dominant, but further exploration of the offspring was needed to confirm this. Out of ten children, 7 were said to possess the dominant allele for tongue rolling which seemed to close to predictions made based upon heterozygotic dominant crosses of the grandparents. This also shows that both of the grandparents must possess one recessive (t) allele in order to have 3 homozygotic recessive, non-tongue rolling children. Had the either 1 of the grandparents been homozygotic dominant (TT) for the trait, 100%, all 10 of their children would be affected, and demonstrate the tongue rolling trait. A cross between heterozygotic dominant (Tt) parents should show a 3:1 phenotypic ratio (3/4 or 0.75) in favor of the dominant trait; however we saw a 7/10 ratio (0.7) for the dominant trait. While this is close to the predicted .75, it is possible that an error in self reporting had occurred. The first aunt claimed she was unable to roll her as well as all of her children. However the claim that all three of her children could not as well is consistent with the aunt and her husband both being homozygotic recessive (tt) for the tongue rolling trait. The maternal lineage was consistent with being autosomal dominant just as the paternal lineage and also showed that 4 out of 5 offspring were dominant for the tongue rolling gene having at least one (T) allele. The grandparents were said to be unknown however the appearance of 1 of 5 offspring being unaffected and therefore homozygotic recessive for the trait shows that both of the maternal grandparents must be heterozygotic dominant (Tt) for the tongue rolling trait. The offspring of maternal son (#2) must be heterozygotic dominant as his mother (maternal #3) was homozygotic recessive for the trait and procreated with a male who was positive for the tongue rolling trait (either Tt or TT).

The pedigree showing the inheritance patterns of attached ear lobes was consistent with predicted ratios. The father was homozygotic recessive (ee) and the students mother was either heterozygotic or homozygotic dominant for the trait (without further information or more offspring produced) it is impossible to tell which). Both the student and her brother were affected by the trait confirming they are heterozygotic dominant (Ee) for the attached ear lobes trait. While the aunt did not report any information it was certain that she also is in possession of at least one dominant allele (E), as they are monozygotic twins and possess identical alleles for every trait.

Swanson The gene responsible for attached ear lobes appear to be on an autosomal chromosome as there were no classic patterns noted that are typically associated with sex-linked traits (patterns mentioned earlier in reference to tongue rolling). The traits were seen in every generation and not passed from mother to son, or father to daughter confirming our conclusions that both tongue rolling and attached ear lobes dominant traits and their genes are found on autosomal chromosomes.