Search

for
Search:

GlossaryGenotyping

determining genetic makeup by analyzing DNA sequences

Genotyping is the process of determining the genetic makeup of an individual by examining their DNA sequence. This can reveal variations in genes that may be linked to specific traits or conditions, such as susceptibility to certain diseases or response to medications. It is also known as DNA typing and is commonly used in research, medicine, and forensics to identify genetic differences and similarities.

Related Terms

Sort by

Research

30 / 1000+ results

Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

1 citations , September 2023 in “Acta dermato-venereologica”

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer

January 2025 in “Iraqi Journal of Science”

PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.

research Optimal processing for proteomic genotyping of single human hairs

30 citations , May 2020 in “Forensic Science International Genetics”

The method improved hair analysis for better forensic identification.

In Situ Labeling of DNA Reveals Interindividual Variation in Nuclear DNA Breakdown in Hair and May Be Useful to Predict Success of Forensic Genotyping of Hair

research In situ labeling of DNA reveals interindividual variation in nuclear DNA breakdown in hair and may be useful to predict success of forensic genotyping of hair

27 citations , April 2011 in “International journal of legal medicine”

In situ DNA labeling in hair can help predict forensic DNA analysis success.

research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice

6 citations , March 2007 in “BioTechniques”

PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.

research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery)

August 2023 in “Research Square (Research Square)”

Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide

130 citations , January 2000 in “Nature biotechnology”

research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10

22 citations , September 2014 in “JAMA dermatology”

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

research Characterization of X-Linked SNP genotypic variation in globally distributed human populations

31 citations , January 2010 in “GenomeBiology.com (London. Print)”

The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.

research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin

4 citations , October 2003 in “Annales de Génétique”

A specific gene mutation causes different hair defects in Indian monilethrix families.

Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide

research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide

August 2024 in “Veterinary Dermatology”

Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.

research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum

February 2026 in “Pediatric Dermatology”

research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models

4 citations , March 2024 in “Forensic Sciences Research”

Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.

research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models

2 citations , March 2023 in “Research Square (Research Square)”

Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.

research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

260 citations , July 2010 in “Cell”

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

188 citations , January 2022 in “PubMed”

Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.

research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

157 citations , May 2021 in “Endocrine Reviews”

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

94 citations , July 2020 in “European Journal of Human Genetics”

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

research The long and the short of it: evidence that FGF5 is a major determinant of canine ‘hair’‐itability

73 citations , June 2006 in “Animal genetics”

The FGF5 gene determines hair length in dogs.

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

26 citations , December 2011 in “Journal of Investigative Dermatology”

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

research An efficient, non-invasive approach for in-vivo sampling of hair follicles: design and applications in monitoring DNA damage and aging

12 citations , December 2021 in “Aging”

A new painless method to collect hair follicles helps study DNA damage and aging.

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza

8 citations , December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family

5 citations , September 2013 in “The Journal of Dermatology”

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

research Alopecia Areata is associated with MICA and an extended HLA haplotype

1 citations , March 2004 in “Journal of the American Academy of Dermatology”

Certain genes are linked to the risk of developing Alopecia Areata.

Prevalence of MMP-1 rs1799750 Polymorphism in Androgenetic Alopecia: A Cross-Sectional Study in an Indonesian Population

research Prevalence of MMP-1 rs1799750 Polymorphism in Androgenetic Alopecia: A Cross-Sectional Study in an Indonesia Population

November 2025 in “Molecular and Cellular Biomedical Sciences”

There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.

research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

June 2025 in “Molecular Genetics & Genomic Medicine”

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

11 citations , December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Condylomata Acuminata of HIV-Positive Men May Harbor Focal Areas of Dysplasia: Relevant Implications for the Management of Human Papillomavirus-Induced Disease in High-Risk Patients

research Condylomata acuminata of HIV-positive men may harbour focal areas of dysplasia: relevant implications for the management of human papillomavirus-induced disease in high-risk patients

3 citations , September 2016 in “British Journal of Dermatology”

Warts in HIV-positive men can have serious abnormal cell growth, needing careful analysis and treatment to prevent cancer.