causal mutation

USAGE SUMMARY

The phrase "causal mutation" is correct and usable in written English.
It can be used in contexts related to genetics, biology, or discussions about the causes of changes in organisms. Example: "The study focused on the role of causal mutation in the evolution of certain species."

✓ Grammatically correct

Science

Human-verified examples from authoritative sources

Exact Expressions

60 human-written examples

To confirm the SNP as causal mutation of Srs5, we performed a complementation test.

Rice

We identified a causal mutation in 1 of 14 genes in 50% (353/710).

The American Journal of Human Genetics

Further mapping in this mutant can provide more insights regarding the causal mutation for the mutant phenotype.

Rice

The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling.

The Journal of Molecular Diagnostics

These discrepancies among studies (including our study) might be due to the fact that rs1800795 polymorphism is not the causal mutation, or it is not uniquely responsible.

Annals of Intensive Care

The non-synonymous substitution, V30F is part of the chloroplast transit peptide (US patent 57311810) and hence could not be the causal mutation for Imazethapyr tolerance.

Rice

Thereby, rs10336, rs3921, and rs4619915 polymorphisms could be functionally responsible for the observed effect or could just be polymorphisms in high LD with the causal mutation.

Clinical and Translational Medicine

To confirm the defect of Os11g05552 as causal mutation for ygl138, we performed a complementation analysis by transforming the wild-type gene (Os11g05552) into the ygl138 mutant.

Rice

Hence, the SNP/mutation in the 152nd amino acid could be the causal mutation conferring tolerance against imazethapyr in the HTM.

Rice

These findings provided a general idea for the fine mapping of the causal mutation for milk production and functional traits on BTA3 in the future.

Journal of Integrative Agriculture

This transition is challenging; identification of potentially causal mutation(s) amongst ∼106 variants requires specialized computation in combination with expert assessment.

Journal of Biomedical Informatics

Expert writing Tips

Best practice

When discussing the genetic basis of a disease or trait, clearly specify the gene and the location of the "causal mutation" for clarity and precision.

Common error

Avoid stating that a "causal mutation" is the only factor responsible for a phenotype. Phenotypes are often influenced by multiple genes and environmental factors, not just a single mutation.

Linguistic Context

The phrase "causal mutation" functions as a noun phrase where 'causal' modifies 'mutation', indicating a mutation that is the direct cause of a particular effect or condition. Ludwig examples confirm that this phrase is used to pinpoint specific genetic changes responsible for observed phenotypes or diseases.

Expression frequency: Very common

Frequent in

Science

100%

Less common in

News & Media

0%

Formal & Business

0%

Academia

0%

Ludwig's WRAP-UP

The phrase "causal mutation" is a grammatically sound and frequently used term, primarily in scientific contexts, to describe a mutation that directly causes a specific outcome or condition. As Ludwig AI confirms, it's essential for precise communication in genetics, biology, and medical fields. When using this phrase, ensure clarity by specifying the gene and location of the mutation and avoid overstating its influence, as phenotypes are often complex. Alternative phrases include "causative mutation" and "disease-causing mutation", which can be used depending on the specific context to enhance clarity.

More alternative expressions

Phrases that express similar concepts, ordered by semantic similarity:

causative mutation

This alternative emphasizes the mutation's role in causing a specific effect.

disease-causing mutation

This alternative explicitly links the mutation to the causation of a disease.

etiological mutation

This alternative uses a more formal term (etiological) to denote the mutation's role in the origin of a disease or condition.

mutation responsible for

This alternative uses a descriptive phrase to indicate the mutation's accountability for a particular outcome.

mutation underlying

This alternative suggests that the mutation forms the basis or foundation for a certain trait or disease.

driving mutation

This alternative emphasizes that the mutation is a key factor that leads to a certain event or change.

initiating mutation

This suggests that mutation started or initiated a chain of biological events.

primary mutation

This alternative denotes that mutation is the main or most important genetic variation involved.

root cause mutation

This alternative denotes that mutation is a fundamental genetic change that causes specific conditions.

determinative mutation

This more formal phrasing suggests the mutation decisively influences a phenotype.

FAQs

How is a "causal mutation" identified?

Identifying a "causal mutation" typically involves genetic sequencing, statistical analysis to link the mutation to a specific phenotype, and functional studies to confirm its impact on gene function or expression.

What is the difference between a "causal mutation" and a genetic polymorphism?

A "causal mutation" directly contributes to a specific trait or disease, while a genetic polymorphism is a common variation in DNA sequence that may not necessarily have a direct impact on phenotype. Polymorphisms can be linked to, but not cause, diseases.

What are some alternative phrases for "causal mutation"?

You can use alternatives like "causative mutation", "disease-causing mutation", or "etiological mutation" depending on the context.

How does identifying a "causal mutation" help in treating genetic diseases?

Identifying a "causal mutation" allows for targeted therapies, genetic counseling, and prenatal testing. It enables personalized medicine approaches that address the root cause of the disease.