CHILD MUTATION

Child Mutation

Child Mutation

Introduction

The main purpose of this research report is to make an analysis of child mutation. The basic reason of selecting this topic is my interest towards this topic, as child mutation has become a very serious issue.

Discussion

Child mutations are a change of the DNA sequence within a gene or chromosome of an organism resulting in the creation of a new character or trait not found in the parental type (Nogee, 1994). It is the process by which such a change occurs in a chromosome, either through an alteration in the nucleotide sequence of the DNA coding for a gene or through a change in the physical arrangement of a chromosome.

The work of Bullard and colleagues in this issue of AJRRCM (pp. 1026-1031), examining the role of ABCA3 mutations in older surviving children with ILD, now extends the importance of the ABCA3 mutations beyond infancy (Nogee, 2001). DNA samples from 195 children with chronic lung disease of unknown etiology were analyzed. First, ABCA3 was sequenced from DNA samples of children with desquamative interstitial pneumonitis who were older than 10 years at the time of enrolment. Three of four patients had a common missense ABCA3 mutation (E292V) on one allele and a second unique mutation identified on the other, consistent with an autonomic recessive disorder. Second, the remaining DNA samples, not positive for other SPB or SPC mutations, were screened for the E292V mutation, with seven more children identified(Nogee, 2002). Interestingly, a second mutation was not found in two patients, possibly due to missed mutations, other genetic or environmental influences, or decreased rather than absent ABCA3 function causing disease. Clarifying these issues could have major implications for E292V as a genetic modifier for other pediatric and adult lung diseases.

In this population of children with chronic lung disease, 5% had ...