What is Mutant Gene Identification and Can PGD Help?

04:06 20th May 2017 | Inherited Genetic Disorders

Mutant Gene Identification Mutant Genotypes Genetic Disorders Genotype PGD PGS IVF

Mutant gene identification (also known as disease gene identification) is the process during which scientists identify mutant genotypes. Mutant genotypes are responsible for inherited genetic disorders.

The genotype is the part of an organism or individual which determines a specific characteristic of that cell, organism or individual.”1 A gene mutation is a permanent alteration in the DNA sequence that makes up a gene.2 Essentially, the genetic message carried by the gene is changed or damaged, resulting in genetic disease.

In the diagram you’ll notice two symbols at the top: one represents the male (left) and the other the female (right). Inside the male symbol we have the paternal chromosome pair and inside the female symbol the maternal chromosome pair.

Below the male and female symbols you’ll see four male and female sets. In the first set, both sexes carry a mutated gene. In the second set, the female carries a mutated gene. The third set shows the male carryings a mutated gene and in the final set neither is affected. The gene combination in the final set is ideal.

Can I Pass a Genetic Disorder to My Child?

It is difficult to predict the likelihood of passing on a genetic disorder that runs in the family. It can be estimated, but that can also be complex. There are a number of factors involved, but one of the important ones is knowing how the condition is inherited. Genetic specialists can explain the odds to help couples make educated decisions about family planning.

There are three types of genetic disorders: single-gene, chromosomal and multifactorial disorders.

What is PGD and PGS?

Preimplantation genetic diagnosis (PGD) is the process of analysing fertilised female eggs (embryos), by removing and testing cells to look for genetic disorders, before implantation (in the uterus). Preimplantation genetic screening (PGS) is the process of analysing embryos for chromosomal disorders. Either or both are performed during in vitro fertilisation (IVF). IVF doesn’t require PGD/PGS, but PGD/PGS requires IVF. Essentially fertility specialists want to help prevent future parents from passing on hereditary and/or chromosomal diseases to their babies. Diseases Bridge Clinic can test for include:

Galactosemia

Sickle cell disease

Cystic fibrosis

Glycogen storage disease

Polycystic kidney disease

Familial hypercholesterolemia

Haemophilia

Duchenne muscular dystrophy

Turner syndrome

Klinefelter Syndrome

Hypophosphatemic rickets

Down syndrome