Chapters 1 to 10 Overview A History of Genetics by A.H. Sturtevant provides a brief history of work prior to Mendel and the author’s firsthand account of the events and research that helped shape the field of genetics. Early on, various hypotheses were beginning to be formulated by scientists such as Aristotle, Hippocrates, and Darwin. These include pangenesis, hybridization, and human inheritance which provided Mendel with some ideas to develop his own understanding of heredity. Also, the theory of inheritance and human pedigrees was developed by Maupertuis.
Mendel conducted experiments using the pea plant and developed different modes of inheritance and the expected ratios of offspring. At first, his results were questioned, mostly by Fisher, …show more content…
It is an X-linked recessive disorder that is most common in children, afflicting 1 in 35,000 boys1, 2. Most affected patients have inherited or spontaneous deletions in the dystrophin gene that disrupts translation and results in incomplete proteins. Sufferers of DMD have difficulty climbing stairs, muscle weakness in arms and neck, and progressive muscle-wasting1. It appears that error in gene expression and heredity are the two main causes of DMD. DMD, to this point, has no cure and after identifying the location of the DMD gene mutation, the goal is to restore transcription or to at least restore some type of dystrophin …show more content…
Since human males only possess one X chromosome, a mutation will result in the phenotypic expression of DMD. Females require the mutation to be present on both chromosomes for the phenotype to be expressed. If a female receives one X chromosome with the mutation and the other is absent of it, then the female becomes a carrier of the mutation and will pass it along to her sons. This occurs in two-thirds of DMD cases with the other third resulting from random mutations. Females who possess one copy of the mutated DMD gene are at an increased risk of developing problems with various types of muscle tissue, including cardiac muscle tissue8,9. In one study, the origin of X chromosomes was studied using androgen receptor alleles. The inheritance of the DMD mutation was based on the individual’s mother or analysis of the mutation locus on Xp21. In a majority of the cases studied, the inactive X chromosome was parental 73% of the time and the DMD mutation came from the mother 91% of the time10. Thomas Hunt Morgan’s work regarding sex-linked inheritance, especially on the X chromosome, was a major advancement for developing modes of inheritance among mutations The detailed study of the inheritance of the DMD gene could not have been possible without Maupertuis’ work on human pedigrees. Although his work may not have directly correlated to any future advances in heredity, his published work was the first to notice human
Mendel conducted experiments using the pea plant and developed different modes of inheritance and the expected ratios of offspring. At first, his results were questioned, mostly by Fisher, …show more content…
It is an X-linked recessive disorder that is most common in children, afflicting 1 in 35,000 boys1, 2. Most affected patients have inherited or spontaneous deletions in the dystrophin gene that disrupts translation and results in incomplete proteins. Sufferers of DMD have difficulty climbing stairs, muscle weakness in arms and neck, and progressive muscle-wasting1. It appears that error in gene expression and heredity are the two main causes of DMD. DMD, to this point, has no cure and after identifying the location of the DMD gene mutation, the goal is to restore transcription or to at least restore some type of dystrophin …show more content…
Since human males only possess one X chromosome, a mutation will result in the phenotypic expression of DMD. Females require the mutation to be present on both chromosomes for the phenotype to be expressed. If a female receives one X chromosome with the mutation and the other is absent of it, then the female becomes a carrier of the mutation and will pass it along to her sons. This occurs in two-thirds of DMD cases with the other third resulting from random mutations. Females who possess one copy of the mutated DMD gene are at an increased risk of developing problems with various types of muscle tissue, including cardiac muscle tissue8,9. In one study, the origin of X chromosomes was studied using androgen receptor alleles. The inheritance of the DMD mutation was based on the individual’s mother or analysis of the mutation locus on Xp21. In a majority of the cases studied, the inactive X chromosome was parental 73% of the time and the DMD mutation came from the mother 91% of the time10. Thomas Hunt Morgan’s work regarding sex-linked inheritance, especially on the X chromosome, was a major advancement for developing modes of inheritance among mutations The detailed study of the inheritance of the DMD gene could not have been possible without Maupertuis’ work on human pedigrees. Although his work may not have directly correlated to any future advances in heredity, his published work was the first to notice human