NCMA217 LEC WEEK2D GENETICS

GENETICS

the study of the ways such disorders occur.

xx female

xy male

GENETIC DISORDERS

are disorders resulting from a defect in the structure or number of genes or chromosomes.

PHENOTYPE

refers to his or her outward appearance or the expression of the genes.

GENOTYPE

refers to his or her actual gene composition.

GENOME

the complete set of genes present which is about 50,000-100,000

AUTOSOMAL DOMINANT INHERITANCE

either a person has two unhealthy genes or is heterozygous, with the gene
causing the disease stronger than the corresponding healthy recessive gene for the same trait.

-50% NA MAHAHAWA ANG ANAK MO EITHER BABAE O LALAKI

AUTOSOMAL RECESSIVE INHERITANCE

• these tend to be biochemical or enzymatic

• A known common ancestor between the parents sometimes exists.

• This explains how both male and female came to possess a like gene for the disorder.

• 1,500 known ARD are identified

25% CHANCE carrier mom and dad yung magiging anak nila magiging carrier lang din then yung isa affected na

X-LINKED DOMINANT INHERITANCE

• only X chromosome with the trait need be present for symptoms of the disorder to be manifested.

  1. All individuals with the gene are affected
  2. All female children of affected men are affected; all male children of affected men are unaffected
  3. All children of homozygous affected women are affected. 50% of the children of heterozygous affected women are affected.

-300 known xlinked disorders

X-LINKED RECESSIVE INHERITANCE

• inheritance of the gene from both parents is incompatible with life.

  1. Only males in the family will have the disorder
  2. A history of girls dying at birth for unknown reasons often
  exists (females who had the affected gene on both X
  chromosomes
  3. Sons of an affected man are unaffected

  
  

Y-LINKED INHERITANCE

no known disease genes are inherited by Y-chromosome transmission.

affected father= affected son

healthy mom = healthy dowter

TRISOMY 13 SYNDROME

• also called Patau syndrome

• is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.

may cleft palate bingot daming daliri small eyes basta mukhang abnormal andaming abnormalities

condition, with multiple malformations due to an additional copy of all or part of chromosome 13. The cause of this additional copy of chromosome 13 is unknown

TRISOMY 18 SYNDROME

• also called Edwards syndrome

• is a chromosomal condition associated with abnormalities in many parts of the body.

• Individuals with trisomy 18 often have slow growth before birth and a low birth weight.

small physical size

CRI-DU-CHAT SYNDROME

• also known as 5p- syndrome and cat cry syndrome

• is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5

small head and jaw

mental retardation

TURNER SYNDROME

• is a chromosomal condition related to the X chromosome that alters development in females

• it is not usually inherited in families.

short height, failure of the ovaries to develop and heart defects.

YUNG DI NADEVELOP YUNG OVARY MO KATAWANG LALAKI KA PERO BABAE KA HALF HALF

KLINEFEITER SYNDROME

• also known as the XXY condition,

• is a term used to describe males who have an extra X chromosome in most of their cells

Klinefelter syndrome, also known as 47, XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles

DIBA 46 LANG YUNG CHRM NATIN SIYA 47 NASOBRAHAN

FRAGILE X SYNDROME (FXS)

is a genetic disorder characterized by mild-to-moderate intellectual disability

BROAD FOREHEAD

MAHABA MUKHA

LARGE EARS

TRISOMY 21 SYNDROME

• sometimes referred to as "Down's syndrome"

• is a common genetic disorder that occurs when a person has three copies of chromosome 21.

DIBA DAPAT YUNG CHRM 21, 1 PAIR = 2 PCS LANG,

YUNG TRISOMY 21, 3 PCS YUNG CHRM 21 NIYA IMBIS NA 2 LANG