Chromosome mutations and gene mutations

Alterations in the number or structure of chromosomes are called chromosome mutations.Chromosome mutations can happen during mitosis and meiosis when chromosomes are being condensed and pulled apart. Homologous chromosomes may fail to separate, resulting in non-disjunction. Chromosome mutations also occur during interphase when DNA replicates, and during crossing over when sections of chromosomes are exchanged.

Gene mutationsare changes in the nucleotide base sequence in a cistron (the portion of DNA that makes up a single gene). A change of a single nucleotide base pair is called a point mutation.There are a number of types of point mutation, including:

▪ substitution- the replacement of one nucleotide with another containing a different base

▪ deletion - the loss of a nucleotide

▪ insertionor addition- addition of an extra nucleotide.

Sickle-cell anaemia is an example of an inherited condition that results from a substitution. Gene mutations may also result from duplication(repetition of a portion of a nucleotide sequence within a cistron) and inversion(reversal of the portion of the nucleotide sequence in the cistron).

Most mutations, if expressed, are harmful. Note, however, that in diploid organisms such as ourselves, mutations usually result in recessive alleles. These are expressed only in the homozygous condition unless the mutation is on the X chromosome. Many mutations result in a change in the shape of a protein so that the protein cannot function properly (for example, the mutation that causes sickle-cell anaemia). Mutations that affect large sections of a gene, and chromosome mutations are often lethal. However, some mutations have no effect: a mutation may occur in a non-coding part of DNA; it may produce a different codon for the same amino acid; or the altered amino acid sequence may not affect the protein's shape or function. Occasionally, a mutation is beneficial, changing the phenotype so that an organism has a better chance of surviving and reproducing. Although beneficial mutations are very rare events, they are bound to happen sooner or later if there is a large number of individuals in a population. These mutations are of immense importance because they are the ultimate source of all variation: the raw material for the evolution of new species by natural selection.

 

■ Glossary of essential terms for you to know

№	English term	Russian equivalent
1.	variation	генетическая изменчивость, мутация
2.	source	источник, причинa
3.	ultimate	конечный, предельный, основной
4.	to inherit	наследовать
5.	to arise	возникать
6.	spontaneously	спонтанно, хаотично
7.	to induce	вызывать, побуждать, причинять
8.	mutagen	мутаген
9.	mustard gas	иприт, горчичный газ
10.	unique	уникальный
11.	to distinguish	различать
12.	twins	близнецы
13.	subtle	незаметный
14.	make-up	состав, конституция
15.	to mask	маскировать, скрывать
16.	feature	черта, качество
17.	trait	свойство, особенность
18.	offspring	потомство
19.	to fulfill	реализовывать
20.	to grade into еach other	постепенно переходить одному в другой
21.	considerable	значительный
22.	to merge	сливаться
23.	quantitative	количественный
24.	qualitative	качественный
25.	subjective	субъективный, индивидуальный
26.	descriptive	описательный
27.	dwarf	карликовый
28.	discontinuous	прерывистый, прерывающийся
29.	assortment	набор, выбор, ассортимент
30.	to cross over	переходить, перекрещиваться
31.	random	случайный, произвольный, беспорядочный
32.	fertilization	оплодотворение, опыление
33.	shuffle	перемешивать, перетасовывать
34.	to affect	негативно воздействовать, поражать
35.	to transcribe	записывать, воспроизводить
36.	to confine	заточить, держать взаперти, ограничивать
37.	to derive	наследовать, происходить, получать
38.	viral	вирусный
39.	alteration	изменение
40.	to condense	конденсироваться
41.	to put apart	разрывать на части (куски), раздирать
42.	disjunction	разъединение, отделение
43.	to replicate	реплицировать, воспроизводиться путем клеточного деления
44.	substitution	замещение
45.	deletion	делеция (удаление или утрата части генетического материала хромосомы), стирание
46.	sequence	последовательность
47.	cistron	цистрон
48.	inversion	инверсия (генов), (взаимная перестановка)
49.	reversal	полная перестановка
50.	lethal	смертельный, летальный
51.	codon	кодон
52.	to be bound to happen	обязательно случаться, происходить
53.	immense	огромный, колоссальный
54.	insertion	инсерция (встраивание генетическогоэлемента в хромосому)
55.	sickle-cell anemia	серповидноклеточная анемия (наследственная болезнь, преимущественно афро-американцев)

 

■ Your Essential Assignments

I.Quick check

1. What is a mutagen? Give one example.

2. Distinguish between the genotype and the phenotype of an organism.

3. If a diploid organism has two different alleles for the same gene, is it homozygous or heterozygous?

4. Is weight in humans an example of continuous variation or discontinuous variation?

 

II. Using a monolingual English dictionary define the following genetic terms:

allele; homozygous; heterozygous; dominant; recessive; polygenic.

III. Find Russian equivalents to the following word combinations:

№	English term	Russian equivalent
1.	inherited variation
2.	spontaneous mutations
3.	recessive form
4.	to be easy to distinguish
5.	subtle differences
6.	genetic make-up
7.	observable or measurable traits
8.	human height and weight
9.	differences grade into each other
10.	considerable environmental influence
11.	to arise partly
12.	multicellular organisms
13.	to induce mutations
14.	base sequence
15.	to result from
16.	to result in
17.	beneficial mutation
18.	natural selection
19.	to be of immense importance

 

IV. Fill in the gaps with the words and expressions from the text:

1. Mutations can either … spontaneously or … by agents called mutagens.

2. Mutations are usually thought of as … and they often are.

3. Occasionally, a mutation is …, changing the phenotype so that an organism has a better chance of … and ….

4. Genetic differences reflect… of an organism, that is, its genetic ….

5. Mutations that affect large sections of a gene and chromosome mutations are often ….

6. Although beneficial mutations are …, they are found to happen sooner or later if there is a large … in a population.

7. A mutation is … in the amount or the chemical structure of DNA.

8. The genotype determines the … of an organism, whereas the environmental factors to which it is exposed determine to ….

9. In continuous variations, differences are ….

10. In discontinuous variations, the differences are ….

 

V. Find English equivalents to the following word combinations:

№	Russian term	English equivalent
1.	возникать спонтанно
2.	уровень спонтанных мутаций варьирует
3.	оказывать негативное воздействие
4.	доза радиации
5.	члены одного вида
6.	влияние окружающей среды
7.	видимые или измеряемые характеристики
8.	взаимодействие генотипа и окружающей среды
9.	существующий набор генов
10.	быть результатом замещения
11.	поражать большие наборы генов
12.	нуклеотидная последовательность
13.	функционировать нужным образом
14.	незначительные различия