Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Genetic markers and congenital cataract]

H Zygulska-Mach1, B Turowska, K Krukar-Baster

  • 1Katedry i Kliniki Okulistyki Collegium Medicum UJ, Krakowie.

Klinika Oczna
|January 1, 1994
PubMed
Summary

Genetic markers are linked to congenital cataracts in children. Specifically, the haptoglobin (Hp) 2-1 phenotype was more frequent in affected families, suggesting a genetic association.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Angiomorphology of the pigmented Bomirski melanoma growing in hamster eye.

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft·2002
Same author

Frequency data on the loci vWA, FES/FPS, F13A01, TH01, TPOX and CSF1P0 in a population from South Poland.

International journal of legal medicine·2000
Same author

Experimental ruthenium plaque therapy of amelanotic and melanotic melanomas in the hamster eye.

Melanoma research·2000
Same author

[Attempts of orbit irradiation after enucleation of the eye with malignant choroidal melanoma. Part I].

Klinika oczna·1999
Same author

[Coexistence of unilateral retinoblastoma and Leber-Coats's disease in contralateral eye-case report].

Klinika oczna·1999
Same author

[Scleritis resembling choroidal melanoma: a case report].

Klinika oczna·1999

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Pediatrics

Context:

  • Congenital cataract is a significant cause of childhood visual impairment.
  • Understanding the genetic basis of congenital cataract is crucial for diagnosis and potential interventions.

Purpose:

  • To investigate the association between specific genetic markers and the incidence of congenital cataract in pediatric patients.
  • To compare the frequencies of genetic markers in families with congenital cataract against a control population.

Summary:

  • This study analyzed genetic markers (ABO, MN, Rh, Gm1, ACP1, Esterase D, Haptoglobin) in 66 children from 32 families diagnosed with congenital cataract.
  • A higher frequency of the heterozygote haptoglobin (Hp) 2-1 phenotype was observed in families with congenital cataract.
  • Conversely, a decreased frequency of the homozygote Hp 2-2 phenotype was noted in affected families.

Impact:

  • Identifies a potential genetic marker (haptoglobin phenotype) associated with congenital cataract.
  • Provides data for further research into the genetic etiology of childhood cataracts.
  • Contributes to the understanding of genetic predispositions for congenital eye conditions.

Related Experiment Videos