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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.

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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.

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 Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes

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 NUDT15, FTO, and RUNX1 Genetic Variants and Thiopurine Intolerance Among Japanese Patients With Inflammatory Bowel Diseases

40 citations, January 2017 in “Intestinal Research”

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

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

157 citations, May 2021 in “Endocrine Reviews”

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

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 Provides 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 the HR Gene 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.

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 Harbor 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.

research Increased Frequency of Heterozygosity for 21-Hydroxylase Deficiency Among Hirsute Females

1 citations, January 1986 in “Journal of Steroid Biochemistry”

Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.

research Study Design for the Stanford Dermatology Personal Genomics Project

May 2014 in “Journal of The American Academy of Dermatology”

The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.

research EDA2R Is Associated With Androgenetic Alopecia

82 citations, September 2008 in “Journal of Investigative Dermatology”

EDA2R gene linked to hair loss.

research The Slick Hair Coat Locus Maps to Chromosome 20 in Senepol-Derived Cattle

51 citations, January 2007 in “Animal Genetics”

The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.

research Vitamin D Receptor Gene Polymorphisms Are Not Associated With Alopecia Areata

13 citations, September 2007 in “International Journal of Dermatology”

Vitamin D receptor gene variations are not linked to alopecia areata.

research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing

5 citations, November 2022 in “Genetics selection evolution”

Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.

research Case Report: NUDT15 Polymorphism and Severe Azathioprine-Induced Myelosuppression in a Young Chinese Female with Systemic Lupus Erythematosus: A Case Analysis and Literature Review

1 citations, May 2023 in “Frontiers in Pharmacology”

Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.

research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing

1 citations, March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.

research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71

75 citations, October 2010 in “Mammalian genome”

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome

research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome

15 citations, January 2013 in “European Journal of Pediatrics”

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

research Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice

13 citations, July 2012 in “Pigment Cell & Melanoma Research”

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

7 citations, February 2019 in “Veterinary medicine and science”

An American Bully with a genetic skin condition improved significantly with specific topical treatments.

Studying Cytotoxic T-Lymphocyte-Associated Antigen-4 (CTLA-4) Gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome

research Studying Cytotoxic T-Lymphocyte-Associated Antigen-4 (CTLA-4) Gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome

2 citations, December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ”

The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.

Single Nucleotide Polymorphisms Associated with Elevated Alanine Aminotransferase in Patients Receiving Asunaprevir Plus Daclatasvir Combination Therapy for Chronic Hepatitis C

research Single Nucleotide Polymorphisms Associated with Elevated Alanine Aminotransferase in Patients Receiving Asunaprevir Plus Daclatasvir Combination Therapy for Chronic Hepatitis C

2 citations, July 2019 in “PLOS ONE”

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

research Intermittent Nitrate Transdermal Therapy

1 citations, October 1990 in “The Lancet”

Using minoxidil for hair growth may cause skin lesions in some people, and taking breaks from nitrate patches for angina might worsen symptoms.

research Highlights from the 68th Annual Meeting of the Society of Investigative Dermatology

August 2007 in “Journal of Investigative Dermatology”

The meeting discussed vitamin D3's role in fighting tuberculosis, potential treatments for skin conditions like psoriasis, and hair follicle regeneration as a possible solution for hair loss.