Question

1. On March 7, 1964, the baby known as Pierre was born in a remote part of Quebec Province in Canada. He appeared to be a healthy six-pound twelve-ounce child, except he did not eat well. Over the weeks after his birth, he became progressively more lethargic, vomiting periodically. Most peculiarly, his urine smelled of rotten cabbage, and soon the smell permeated his clothes and body. By the time he was admit- ted to the hospital on September 14, his muscles were weak and his ribs were showing. Baby Pierre had only gained half a pound in the six months since his birth. The doctors kept him alive by feeding him through a tube threaded through his nose and into his stomach. He gained weight and strength for a while, and then suddenly took a turn for the worse. On November 30, baby Pierre vomited blood and died. It soon became increasingly apparent that other babies in the Chicoutimi area of Quebec Province had similar symptoms, and people recalled similar deaths in this remote area 120 miles north of Quebec City. Some families lost several children to Pierre's disease. In those families stricken, it soon became clear that the parents were normal, but about one quarter of their children were afflicted. Boys and girls were equally afflicted. Specialists soon concluded that all of the facts indicated that this was a genetic disorder. If a genetic disorder was the cause, which answer is correct? V a) Pollutant is causing mutations. b) Multiple alleles are involved. c) The disease is due to a dominant allele. d) Baby Pierre's parents are homozygous for a recessive allele causing the disease. e) The disease is due to an autosomal recessive. Explain.

Answer 1

According to above article a child born on a healthy condition but difficulty in eating . After a weak worse health condition arises different disease symptoms are seen . After some weeks death of child occur in hospital .

Major line of the above article :-

(1) parent are normal but one quarter of child are affected . Boys and girl are equally affected .

(2) other are affected in chicoutimi area . People are recall the symptom and death happen previously in some area.

(3) identification of Pierre's disease ,It is a genetic disorder .

what is Pierre's disorder :-

This is a congential defect , facial abnormality ( increasing in lower jaw in infant during pregnancy time ) respiratory difficulty arises and plate cleft often U- shaped .

Due to this reason in above article describe about difficulty in eating of child . That describe that distinction of jaw of new born baby .

Difficulty and features of this disease are microganthia , glassaptosis , abnormality in upper air way .

Cause of this disease :- Due to mutation on chromosome number (2,4 ,11 and 17 ) and mutation due de- novo mutation.

What is de - novo mutation :-

This type of mutation is newly arises in a generation . There is no family history of mutation of the disorder . This is due to chemical factor or mutagens . Some time mutation happen in germ cell of parent due to this reason child suffer from this disease but parent are totally healthy . ( No somatic cell of parent are affected or muted ) due to this reason in above article are said that father are normal and one quarter child are affected .

Due to de - novo mutation deletion of Gene in chromosome number 11 and 17 . The deletion gene name is SOX9 . This gene regulate the synthesis of different protein and this protein help in muscle synthesis and these helpful for synthesis of muscle in jaw . Due to this reason muscle weakness seen in infected child .

CONCLUSION :- if this disease is under autosomal recessive disease they able to skip generation but other are not affected same are people .

Mutation always done by mutagens . Pierre's disease done by De- novo mutation and new mutation always done by mutagens and radiation . It is not seen in previous generation . It may due to pollutants causing mutation in particular area .

Ans :- pollutant causing mutation . ( Genetic disorder ) .

We can say this is a homozygous recessive disorder not able see in every generation , it only shows it's effect in homozygous condition but it seen in a particular geographical area so this hypothesis may be eliminate .