Pedigree Drawing and Analysis Starts with the person through whom the family came to medical...
-
Upload
godfrey-ellis -
Category
Documents
-
view
212 -
download
0
Transcript of Pedigree Drawing and Analysis Starts with the person through whom the family came to medical...
![Page 1: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/1.jpg)
Pedigree Drawing and Analysis
• Starts with the person through whom the family came to medical (genetic) attention
• Has a codified shorthand• Standardization of symbols generally
adopted• Information obtained historically or by
ongoing evaluation– updatable – allows a pattern of inheritance of a trait to be
determined– useful for linkage analysis (see later lecture)
![Page 2: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/2.jpg)
Male
Female
Phenotypic/genotypic affected
Used to mark the proband (index case)
Lines are used to link individualsHorizontal lines between symbols denote matingVertical lines mark parent/child relationships
Birth order is left = oldest, right = youngestTwins have special notation
Sex unknown
Numerals in symbols indicate number of sibs of same sex
![Page 3: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/3.jpg)
Roman Numerals indicate GenerationsArabic numerals identify individuals within a generation
1 2
II
2 3
I
1 4
![Page 4: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/4.jpg)
1 2
II2 3
I
1 4
III
![Page 5: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/5.jpg)
What is the inheritance pattern and why?
![Page 6: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/6.jpg)
What pattern of inheritance is shown?
![Page 7: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/7.jpg)
What additional information might molecular, biochemical or chromosomal techniques reveal?
![Page 8: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/8.jpg)
What pattern of inheritance is present?Can additional information be deduced about individuals in each generation?
![Page 9: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/9.jpg)
![Page 10: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/10.jpg)
![Page 11: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/11.jpg)
X linked lethal? or X-linked recessive?
![Page 12: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/12.jpg)
The pedigree indicates the individuals who have hadsymptoms of acute porphyria.
![Page 13: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/13.jpg)
However, biochemical testing reveals this pedigree.What principle is being demonstrated?
![Page 14: Pedigree Drawing and Analysis Starts with the person through whom the family came to medical (genetic) attention Has a codified shorthand Standardization.](https://reader036.fdocuments.in/reader036/viewer/2022083009/5697bf7d1a28abf838c8484b/html5/thumbnails/14.jpg)
What pattern of inheritance is present?What can you tell person III 4?