gene, pattens of inheritence

Question 1

gene disorder

Answer 1

disease caused by abnormality in individuals DNA

Question 2

monogenic

Answer 2

mendelian disorder caused by mutation in a single gene

Question 3

multigenic (polygenic)

Answer 3

mutation or SNP’S in a number of interacting genes that affect a single phenotypic trait

Question 4

multifactorial

Answer 4

complex as they result from interaction between environment and genes

Question 5

chromosomal abnormalities

Answer 5

defect in a chromsome

Question 6

2 types of chromosomal abnormality

Answer 6

1.numerical abberations
2.structural abberations

Question 7

numerical abnormalities

Answer 7

extra chromosome or deficiency in chromosomes

Question 8

Down syndrome

Answer 8

47 chromosomes instead of 46

Question 9

tuner syndrome

Answer 9

45 chromosomes (monosomy

Question 10

deletion

Answer 10

portion of chromosome missing or deleted

Question 11

duplication

Answer 11

portion of chromosome is duplicated resulting in extra genetic material

Question 12

inversions

Answer 12

portion of the chromosome has broken off , turned upside down and reattached therefore the genetic material is inverted

Question 13

isochromosome

Answer 13

chromosome which one arm is missing and the other duplicated in a mirror image fashion

Question 14

ring

Answer 14

portion of a chromosome has broken off and formed a circle or ring

Question 15

translocation

Answer 15

portion of one chromosome is transferred to another chromosome leading to unusual arrangement of chromosome

Question 16

mendelian inheritance(monogenic disease, non continuous)

Answer 16

1.autosomal dominant inheritance
2.autosomal recessive inheritance

Question 17

mendelian inheritance(monogenic disease, non continuous)

Answer 17

x linked or sex chromosome inheritance :
1.x linked recessive inheritance
2.x linked dominant inheritance

Question 18

non-mendelian

Answer 18

epigenetic diseases, polygenic and lethal alleles

Question 19

mendelian law of inheritance

Answer 19

single genes .each parent contributes 1 of 2 possible alleles for a trait

Question 20

autosomal recessive single-gene disease

Answer 20

individuals with 2 mutant alleles of the disease associated gene

Question 21

normal allele

Answer 21

dominant phenotype

Question 22

mutated allele

Answer 22

recessive phenotype

Question 23

autosomal dominant diseases

Answer 23

individual has one mutant alleles of disease associated gene

Question 24

x linked recessive diseases

Answer 24

men don’t have second copy of X chromosome to cancel out negative effects of x linked mutations that is recessive

Question 25

x linked dominant diseases

Answer 25

females with X chromosome linked dominant disease can inherit the mutant gene from either an affected mother or father

Question 26

y linked disease

Answer 26

passed on from father to son , only one copy of the mutated gene is present