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IV V Fig. 1 Disease pedigree in one family. Five generations I, II, III, IV and V are shown. Females are represented by circles, males by squares, sex unknown by a diamond and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype; unfilled symbols indicate that the individual is unaffected. Carriers are not indicated. No information on disease status is available for generation I. d E 1. Which pattern(s) of Mendelian inheritance is (are) suggested by the pedigree in Fig. 1? Clearly explain your reasons for selecting and eliminating particular inheritance patterns. emphs inmoble

IV V Fig. 1 Disease pedigree in one family. Five generations I, II, III, IV and V are shown. Females are represented by circles, males by squares, sex unknown by a diamond and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype; unfilled symbols indicate that the individual is unaffected. Carriers are not indicated. No information on disease status is available for generation I. d E 1. Which pattern(s) of Mendelian inheritance is (are) suggested by the pedigree in Fig. 1? Clearly explain your reasons for selecting and eliminating particular inheritance patterns. emphs inmoble

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Problem Question The pedigree in one family with an inherited disorder affecting the nervous system is shown in Fig. 1. Ő IV V ||| sopisin mob I Fig. 1 Disease pedigree in one family. Five generations I, II, III, IV and V are shown. Females are represented by circles, males by squares, sex unknown by a diamond and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype; unfilled symbols indicate that the individual is unaffected. Carriers are not indicated. No information on disease status is available for generation I. 1. Which pattern(s) of Mendelian inheritance is (are) suggested by the pedigree in Fig. 1? Clearly explain your reasons for selecting and eliminating particular inheritance patterns.
Transcribed Image Text:Problem Question The pedigree in one family with an inherited disorder affecting the nervous system is shown in Fig. 1. Ő IV V ||| sopisin mob I Fig. 1 Disease pedigree in one family. Five generations I, II, III, IV and V are shown. Females are represented by circles, males by squares, sex unknown by a diamond and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype; unfilled symbols indicate that the individual is unaffected. Carriers are not indicated. No information on disease status is available for generation I. 1. Which pattern(s) of Mendelian inheritance is (are) suggested by the pedigree in Fig. 1? Clearly explain your reasons for selecting and eliminating particular inheritance patterns.
Linkage analysis mapped the disease to a specific chromosomal region. A connexin gene (abbreviated Cx) is known to lie in this region suggesting that mutations in Cx may cause the disease. Southern Blotting (Fig. 2) was used to determine whether individuals in the pedigree have Cx mutations. 2. (i) (ii) DNA marker (base pairs, bp) (iii) 273 bp 250 bp II.1 - 11.4 Fig. 2 Southern Blot of DNA from affected and unaffected individuals in the pedigree shown in Fig. 1. DNA corresponding to part of coding region of Cx was amplified by PCR, digested with a restriction enzyme, and the resulting fragments separated by polyacrylamide gel electrophoresis. The blot was hybridized with a Cx sequence specific probe. Data are shown for five individuals from the pedigree in Fig. 1. SOXT III.2 III.4 IV.3 Interpret the blots for the individuals shown in Fig. 2. Do the data confirm/refute the pattern(s) of inheritance you deduced from the pedigree in Fig. 1? From the information provided in Figs. 1 and 2 what band pattern would you expect for the other individuals in generations I to V? Do you think Southern Blotting is a fully reliable technique for confirming that a candidate gene is mutated in a particular disease? What alternative technique might one use and what are its relative merits?
Transcribed Image Text:Linkage analysis mapped the disease to a specific chromosomal region. A connexin gene (abbreviated Cx) is known to lie in this region suggesting that mutations in Cx may cause the disease. Southern Blotting (Fig. 2) was used to determine whether individuals in the pedigree have Cx mutations. 2. (i) (ii) DNA marker (base pairs, bp) (iii) 273 bp 250 bp II.1 - 11.4 Fig. 2 Southern Blot of DNA from affected and unaffected individuals in the pedigree shown in Fig. 1. DNA corresponding to part of coding region of Cx was amplified by PCR, digested with a restriction enzyme, and the resulting fragments separated by polyacrylamide gel electrophoresis. The blot was hybridized with a Cx sequence specific probe. Data are shown for five individuals from the pedigree in Fig. 1. SOXT III.2 III.4 IV.3 Interpret the blots for the individuals shown in Fig. 2. Do the data confirm/refute the pattern(s) of inheritance you deduced from the pedigree in Fig. 1? From the information provided in Figs. 1 and 2 what band pattern would you expect for the other individuals in generations I to V? Do you think Southern Blotting is a fully reliable technique for confirming that a candidate gene is mutated in a particular disease? What alternative technique might one use and what are its relative merits?
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