Pedigree Diagram help

Pedigree Diagram help

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I am asked to fill the genotypes in the spaces provided but looks like I am aving a little bit of trouble. can anyone help? thanks in advance!

Here are a few hints that might help:

Talking about Maria's pedigree: Firstly, it seems as if you have mixed up with $X^a$ and $X^A$, see that the disorder is X-linked DOMINANT. Anyone with either heterozygous or homozygous dominant expression would have the disease expressed. So the first generation male should have a genotype: $X^aY$, because if it were $X^AY$ then Amelogenesis imperfecta would be expressed as his phenotype and the first generation female should have a homozygous recessive genotype. Also no child in the second generation would suffer from the same. (NOTE: The one suffering from Amelogenesis in the second generation would have genotype $X^AY$)

As for Gunther disease, both the parent in the first generation should have a heterozygous dominant expression and the offspring suffering must have a homozygous recessive expression. And you can apply the same basics in Peter's pedigree.

I think this much should be enough to complete the task, but if you still have some doubt you can put it forward in the comments.

A Beginner's Guide for Pedigree Chart

Have you always been interested in the genetic study of both animals and humans? Do genetic diseases running in your family make you think often? Then a pedigree diagram is for you! Etching the same in your pastime will not just educate you about your earlier generation but also help you in a genetic study.

Part 1: What Is a Pedigree Chart?

While Wikipedia defines pedigree chart as a simple diagram depicting the phenotypes of a specified organism along with its ancestors, in layman language, it’s a perfect way to analyze inheritance patterns and traits running through a family. Though it appears much like a family tree in structure and form, in reality, it’s a working document covering hereditary diseases and similar other areas of study.

As you can check out from the image above, it’s presented mostly in the form of a readable chart, filled up with standard symbols, whereby squares represent males, and circle denotes females.

People, who wish to study the presence of a genetic condition in a family and determine the chances of a newborn having a particular genetic disorder, usually resort to pedigree diagrams in real life. Apart from humans, the same finds application in selective animal breeding, whereby the chart plays a vital role in the breeding program, aimed to improve the desirable traits in them.

Part 2: Benefits of Pedigree Charts

By now, you must have gathered an understanding of pedigree diagrams and their very purpose. But, if you haven’t quite grabbed knowledge about the benefits rendered by it, get them straight here.

  • Represents complicated family information in a simple and readable format.
  • Proves useful in genetic study.
  • Helps track genetic diseases running in one’s family.
  • Anticipate the probability of a child receiving a particular genetic disorder.
  • Proves valuable in animal breeding.
  • Assists people, who choose to infuse certain traits in animals through a well thought out breeding program.

Part 3: Family Tree VS Genogram VS Pedigree Chart

Given the benefits promised by pedigree analysis, one is often encouraged into the same, but only after clearing up of confusion. The latter is often felt by people who mix up the concept with a family tree and genogram.

Since the subject of the article is a pedigree diagram, let’s draw a comparison chart of the same against a family tree at first and genogram later.

Pedigree versus Family Tree

Both the concepts depict family history, whereby members are traced back through generations.

Pedigree versus Genogram

Both include biological relatives.

Part 4: Examples of Pedigree Charts

Let’s consider two pedigree chart examples, one of a dog and the other of a human, to understand the concepts better. We bet going through them would strengthen your knowledge.

Example 1: Pedigree Analysis of a Dog

Typically, it’s used up by breeders to study temperament, health and exclusive traits of a dog. Before starting, let’s make it clear that the diagram captures the strengths and weaknesses of litter-mates and their ancestors. A close look at the same would ultimately help you improve certain traits in the offspring and eliminate the problem areas.

What sets the diagram apart from others is the inclusion of littermates at all levels, except for the oldest generation. Using the same, one can easily extract the necessary information for suggesting improvements and minimizing issues.

Coming back to the elements used up in the diagram, as you can check out from the illustrated picture above, there are squares and circles, whereby the former represents males and the latter females. The rest you can easily make out from the labels given below the chart. As for designated shades, these portray certain disease or traits, whereas the repetition of anything speaks for patterns, which might have been passed on to the next generation.

Example 2: Human Pedigree Analysis

Let’s take the case of X-linked recessive trait - color blindness and its inheritance under human pedigree analysis. If the chart represents the same, then it would appear somewhat like the diagram illustrated above. The Roman numerals on the left stand for generation, whereas the digits symbolize siblings. Only the topmost shapes indicate parents from which children branch out, and as discussed before, squares designate males, whereas circles stand for females. On the contrary, opaque black shapes denote the presence of the trait.

Now coming back to the explanation of the process, as you can check out, both the parents were free from the trait. But, one of their kids (II-3) suffer from color blindness. It suggests that the attribute is recessive, and the same seems to occur mostly in males of the family. You can get a hint of the same by looking at the diagram above, where only a few of the squares have an opaque finish. Others are free from it.

Pedigree diagrams

i'm, new on here and struggling to draw out the pedigree for this wuestion. i have tried numerous times but always end up with one thing missing, something going wrong and it's driving me insane. would be great if a fellow biologist/biomedic or anyone that can answer this question.

part 1 draw a pedigree diagram for the following
darren and ariadne were married for 50 years and they retired to italy. they spent 10 good years there before ariadne passed away after having pneumonia. Darren died a few years after, in his sleep. They had three daughters, the eldest married young and had a son who in the 80&rsquos died from HIV which He had contracted the from contaminated blood products that were used to treat his Haemophilia.
ariadne and darren's second daughter (millie) gave birth to a son at 17 years old but refused to reveal the identity of the father of the child. She married some years later but divorced after only 11 months without having further kids.
the son of millie, james, is married and father to healthy identical twins. darren and ariadne's youngest daughter never married her partner but together they have three children a boy, then a girl, then a boy. Their daughter, Anna is married to Caleb.
Anna and Caleb are parents to two boys but she is pregnant with a girl right now, Their oldest child suffers from Haemophilia A, their second child has just been diagnosed with Prader-Willi syndrome.

Not what you're looking for? Try&hellip

Hi, firstt chk these pics - 2nd one labelled B in green (top left)

Then I will explain logic from my PC (new post)

OK you will have to do a headstand for pic B!! sorry

First look at pic A (not labelled - sry took pic too early!) - it has the basic info we know (at the bottom).
It is easier to work from below upwards - youngest family members first.

Look at pic B:-
You will need to know or look up that haemophilia is transmitted as a sex-linked recessive disorder (you might know that it runs in the royal family) - therefore it is transmitted from an affected man (who MUST be heterozygous because the Y chromosome acts as a "sleeping partner" i.e. has no effect) = XY (underlined = abnormal allele carried on that X chromosome), to a carrier daughter XX who can pass on the abnormal allele to her sons (approx. half of them).

Because eldest daughter's son (left of pics) is affected (has h-philia) we know that his mum (eldest d-ter) must be a carrier, and we can now tell that she must have got it from her dad (so we know now that Darren was XY).

With middle d-ter (Millie), we cannot say much cos we do not know the sex of her grandchildren (although we know they were normal (they could have been XY and XY OR XX and XX OR XX and XX (as they were healthy - female carrier does not have a bleeding diathesis). We do not know whether James had haemophilia 950% chance).

Youngest daughter: Her grandson is haemophiliac (XY), so her d-ter must be a carrier (at least XX, but could be XX - she had a 50% chance of picking up an abnormal allele from her mum [=youngest d-ter]) BUT she must have got her abnormal allele from her dad therefore, (cos daughter can only be a carrier due to abnormal allele from her dad) - that tells us that the dad (youngest d-ter's partner) must also be affected - we assume that whether the two sons of the youngest d-ter (1st & 3rd children) are normal or haemophiliacs (they would get their Y from dad, but their mum could give them X or X..

Finally, cos we do not have accurate info on the sex of the middle daughter's grandchildren, it is possible (50% probability - the Q does not say if he was healthy) that her (Millie's) son (James) was a haemophiliac.

Hope I have got it right - took me a while -----> u owe me a roast beef and Yorkie pudding if you can cook o-wise I will have to settle for junk food (Mac)

Genetic diagram

affected x unaffected
Hh hh
Gametes H or h h only
of offspring
Hh & hh
of offspring
1 affected
: 1 unaffected

Punnett Squares

As discussed above, diploid individuals have two copies of each chromosome: one from their male parent, one from their female parent. This means they have two copies of each gene. They can have two of the same alleles (homozygous) or two different alleles (heterozygous). Regardless of their genotype, they will pass one copy of each chromosome to their offspring. This is because meiosis produces haploid gametes that contain one copy of each chromosome. Since genes are present on chromosomes, this means they will pass one copy of each gene to their offspring. That means that an offspring inherits one allele of each gene from each of its two parents. This is illustrated in Figure 4.

Figure 4: Two parents who are heterozygous each pass one chromosome / gene / allele to each offspring. Each resulting offspring has two of each chromosome / gene. The individual can have two of the same or two different alleles.

An easy, organized way of illustrating the offspring that can result from two specific parents is to use a Punnett square. The gametes that can be generated by each parent are represented above the rows and next to the columns of the square. Each gamete is haploid for the “A gene”, meaning it only contains one copy of that gene. In the Punnett square seen in Figure 5, haploid eggs are above each column and haploid sperm are next to each row. When a haploid sperm and a haploid egg (each with 1 copy of the “A gene”) combine during the process of fertilization, a diploid offspring (with 2 copies of the A gene) is the result.

Figure 5: A Punnett square showing a cross between two individuals who are both heterozygous for A.

A Punnett square shows the probability of an offspring with a given genotype resulting from a cross. It does not show actual offspring. For example, the Punnett square in Figure 5 shows that there is a 25% chance that a homozygous recessive offspring will result from the cross Aa x Aa. It does not mean that these parents must have 4 offspring and that they will have the ratio 1 AA : 2 Aa : 1 aa. It’s just like flipping a coin: you expect 50% heads, but you wouldn’t be too surprised to see 7 heads out of 10 coin flips. Additionally, the probability does not change for successive offspring. The probability that the first offspring will have the genotype “aa” is 25% and the probability of the second offspring having the genotype “aa” is still 25%. Again, it’s just like flipping a coin: if you flip heads the first time, that doesn’t change the probability of getting heads on the next flip.

Organisms don’t just inherit one trait at a time, though. They inherit all their traits at once. Sometimes, we want to determine the probability of an individual inheriting two different traits. The easiest way to do this is to determine the probability of the individual inheriting each trait separately, then multiply those probabilities together. An example of this can be seen in Figure 6.

Figure 6: These two Punnett square show the cross between two individuals who are both heterozygous for two different genes: BbAa x BbAa. We can determine the probability of an offspring having the recessive trait for “B” and the dominant trait for “A”. The probability of the offspring having the recessive phenotype for “B” is 1/4. The probability of the offspring having the dominant phenotype for “A” is 3/4. 1/4 x 3/4 = 3/16.

Another way of determining the probability of getting two different traits is to use a dihybrid Punnett square. Figure 7 shows three generations of the inheritance of pea seed color and shape. Peas can be either yellow or green, and they can be either round or wrinkled. These are two of the traits that Mendel studied in his work with peas. In the first generation (the “P” generation), two true-breeding (homozygous) individuals are crossed. Their offspring will get one allele of the Y gene and one allele of the R gene from each parent. This means that all their offspring (the “F1” generation) will be heterozygous for both genes. The results (the “F2” generation) from crossing two heterozygous individuals can be seen in the 4ࡪ Punnett square in Figure 7.

Figure 7: This dihybrid cross shows the expected offspring from the F2 generation after crossing YYRR x yyrr. Compare the results from this Punnett square to the results seen in the previous figure. They match!

The gametes produced by the F1 individuals must have one allele from each of the two genes. For example, a gamete could get an R allele for the seed shape gene and either a Y or a y allele for the seed color gene. It cannot get both an R and an r allele each gamete can have only one allele per gene. The law of independent assortment states that a gamete into which an r allele is sorted would be equally likely to contain either a Y or a y allele. Thus, there are four equally likely gametes that can be formed when the RrYy heterozygote is self-crossed, as follows: RY, rY, Ry, and ry. Arranging these gametes along the top and left of a 4 × 4 Punnett square (Figure 7) gives us 16 equally likely genotypic combinations. From these genotypes, we find a phenotypic ratio of 9 round–yellow:3 round–green:3 wrinkled–yellow:1 wrinkled–green (Figure 7). These are the offspring ratios we would expect, assuming we performed the crosses with a large enough sample size.

We can look for individuals who have the recessive phenotype for Y and the dominant phenotype for R. These individuals must have two little y’s and at least one big R. The possible genotypes are yyRR or yyRr. Examining the Punnett square in Figure 7, we can find 3 individuals with these genotypes (they are round and green). If you compare the results from Figure 6 and Figure 7, you’ll see that we have arrived at the same value: 3/16!

[AP Biology] Pedigree diagram

So the pedigree diagram ( shows inheritance of hypophosphataemia (vitamin-D-resistant rickets). I am told that the condition affects both sexes, females more frequently but males more severely. My question is what exactly is the mode of inheritance here.

Since not all male offspring are affected in gen 3, I can assume that its (in the very least) not x-linked recessive. This means that it could be x-linked dominant or autosomal recessive/dominant, I can't seem to determine which is more plausible between the three. Any help would be amazing thanks.

You have assumed correctly that's it's not x-linked recessive. It's also not autosomal recessive as there as no carriers.

Gen I - Male is affected, so he has either an disease-linked X or Y

Gen II - Two females are affected, so both must have inherited the disease-linked X from their father. Both males of this gen are disease free, so the Y is not affected.

Gen III - Mother has one disease-linked X and one disease-free X. Hence, has a 50/50 chance of passing the affected X on.

Hopefully this is enough to help to work out the mode of inheritance :)

Well, it does appear to be an X-linked dominant disease, primarily because when passed from the father, the sons are not affected and all the daughters are, and when passed from the mother there is a 50% chance of inheritance.

However, when i drew the genotype for the disease pattern I noticed that it can also plausibly be an autosomal dominant disease. Perhaps I misunderstood the genotypes but I found that

Gen 1: Aa (affected father) and AA(normal mother)

Gen 2: AA (normal son), AA (normal son), Aa (affected daughter), Aa (affected daughter)

Gen 3 (from the affected mother): AA (normal son), Aa (affected son), AA (normal daughter), Aa (affected daughter)

So, unless I did the genotype wrong it also seems plausible that this is an autosomal dominant disorder, while also being an X-linked dominant disorder (the genotypes match here as well). So ultimately, I am not really sure which it could be. I don't know if the fact that this disease is more frequent in females & affects males more severely is supposed to help me identify between the two inheritance patterns but I seem to be stuck. :(

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Problem: Use the pedigree diagram below to answer the following question. Blue toes is an autosomal recessive trait.What is the genotype of the female in generation I?

Use the pedigree diagram below to answer the following question. Blue toes is an autosomal recessive trait.

What is the genotype of the female in generation I?

Frequently Asked Questions

What scientific concept do you need to know in order to solve this problem?

Our tutors have indicated that to solve this problem you will need to apply the Autosomal Inheritance concept. You can view video lessons to learn Autosomal Inheritance. Or if you need more Autosomal Inheritance practice, you can also practice Autosomal Inheritance practice problems.

What is the difficulty of this problem?

Our tutors rated the difficulty ofUse the pedigree diagram below to answer the following quest. as medium difficulty.

How long does this problem take to solve?

Our expert Biology tutor, Kaitlyn took 3 minutes and 47 seconds to solve this problem. You can follow their steps in the video explanation above.

What professor is this problem relevant for?

Based on our data, we think this problem is relevant for Professor Raden's class at UD.

Pedigree Analysis

In genetics, a pedigree is a diagram of a family tree showing the relationships between individuals together with relevant facts about their medical histories. A pedigree analysis is the interpretation of these data that allows a better understanding of the transmission of genes within the family. Usually, at least one member of the family has a genetic disease, and by examining the pedigree, clues to the mode of inheritance of the disorder and the potential risk to other family members can be obtained.

Pedigree analysis can also allow estimation of gene penetrance and gene expressivity. Penetrance is defined as the probability that a disease sate will manifest in an individual who carries an allele cusing the disease is present. For example, if one-half of all individuals who carry a dominant allele eventually manifest the associated disease, the allele has 50% penetrance. Expressivity describes the range of symptoms and degree of sevety associated with different disease states.

The pedigree is initiated by using a symbol to represent the proband or individual seeking counseling. immediate family members (parents, siblings, spouse, children) are added next, followed by aunts, uncles, cousins, grandparents, and others in the proper orientation. Males are indicated as squares and females as circles. The square or circle is filled in for any affected individuals to reflect their disease status. When two people marry or have children together, a single line is drawn between them. A vertical line descends from this marriage line and then connects to another horizontal line, the sibship line. Short vertical lines descend from the sibship line, one for each of the children of this union. All members of one generation are shown adjacent to one another in a A three-generation pedigree analysis. Illustration by Argosy. The Gale Group.
row, with preceding generations above and later generations below. There are special symbols to denote consanguineous marriages (a double marriage line), identical twins (a single line from the sibship line that bifurcates for each twin), fraternal twins (an inverted V drops from the sibship line), divorce and remarriage (cross hatches on the marriage line to show discontinuity between the divorced partners and a second marriage line to the new partner), and so on.

Each generation is labeled at the left with a Roman numeral beginning with the first generation. The members of each generation are consecutively numbered left to right with Arabic numbers, always starting each generation with one. In this way, each person can be specifically identified. For example, the second person in the first generation would be individual I-2, and the sixth person in the fourth generation would be IV-6.

Once the family members are properly arranged, important medical facts can be added. Proper interpretation of the pedigree is dependent upon obtaining accurate information about each individual in a pedigree. The first step in pedigree analysis is to observe the number and relationships of all individuals who express the same or similar clinical features. From this, it should be possible to determine if the disorder is dominant or recessive, autosomal or X-linked by looking for the typical patterns of inheritance. For example, an autosomal disease can usually be distinguished by seeing male-to-male transmission of the mutation, but since males pass only the Y chromosome to their sons, there should never be father to son transmission of an X-linked gene. Males will be most commonly affected in an X-linked disease, whereas males and females should be equally affected in autosomal disorders. In general, a dominant disease will be seen in approximately half of the individuals in each generation, but recessives occur very rarely. If the mutation is in the mitochondrial genome, affected mothers will pass the trait to all of their children, but none of the offspring of an affected male should have the disease.

Once the inheritance pattern of the disorder is determined, the status of family members in the pedigree can be evaluated. By carefully observing the position of affected individuals, mutation carriers may be identified. From this data, the risk of carrier status for other family members or the chance that a couple may have an affected child can be estimated.

Pedigrees are also maintained for many animals, though the purpose of pedigree analysis is somewhat different. The data contained in the pedigree are generally utilized to select individuals with specific characters for breeding purposes. Animals with unfavorable traits are eliminated from consideration so that the next generation will include individuals with more of the preferable traits. For each species, the characters of choice will vary. In the thoroughbred world, pedigree analysis tries to combine speed with stamina and a will to win that will yield winning racehorses. For cows, sheep, and pigs, such characteristics as high milk production, higher muscle content, or better wool are desirable. Even some plants have pedigrees as researchers strive to find drought and pest resistant species with high crop yields.

In medicine, pedigree analysis is an essential part of a complete medical work up for a genetic disease. The information obtained is an important aid in understanding the disorder and providing the best counseling to the family. For other plant and animal species, pedigree analysis is also a useful tool, though the goal is usually for gene selection rather than risk assessment.

Tips for Completing a Printable Pedigree Chart

  1. List your name in position #1 on the left side of the chart.
  2. Positions 2 and 3 will list your father and your mother!
  3. Continue building to the right, including grandparents, great-grandparents etc
  4. Always use CAPITAL LETTERS when writing names on these charts
  5. Always use MAIDEN NAMES for any female listed on your chart

As a minimum, complete one pedigree chart that lists you on line #1. Additional pedigree charts can be completed with each of your children listed in position #1.

Pedigree Chart #2 – Several Unique Charts from

More Blank Family Tree Charts

Family Tree Template - Help With Family Tree Charts

The Family Group Sheet is used to include vital information for one family each. The family group sheet lists the father and mother at the top, with all of the children, from that union, listed on the bottom half of the sheet.

Most family group sheets will ask for names of former spouses. Complete a new family group sheet for each marriage.

As a minimum complete four family group sheets, one with you as father or mother, another with you listed as one of the children and the other two showing your parents as children.

If you have grown children, complete family group sheets for each, showing their spouse's information and the children that they have together

Family Group Sheet #3 – – Be sure to check out the charts on this site!

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