Analysis of Mutations in Human Ornithine Transcarbamylase Deficiency

Caskey, Thomas C.

Abstract

Conventional RFLP analysis allows DNA based diagnosis in 70% of OTC deficiency families. In 30% prenatal diagnosis and carrier detection band on recombinant DNA is currently not possible. This study hopes to directly detect mutations in the remaining 30% by analysis of liver mRNA and thus to become able to perform accurate diagnostic tests.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Center for Research Resources (NCRR)
• Type: General Clinical Research Centers Program (M01)
• Project #: 5M01RR000350-27
• Application #: 3786610
• Support Year: 27
• Fiscal Year: 1993

Institution

• Name: Baylor College of Medicine
• DUNS #: 074615394
• City: Houston
• State: TX
• Country: United States
• Zip Code: 77030

Publications

Kempen, John H; Sugar, Elizabeth A; Varma, Rohit et al. (2014) Risk of cataract among subjects with acquired immune deficiency syndrome free of ocular opportunistic infections. Ophthalmology 121:2317-24

Kozak, Igor; Vaidya, Vijay; Van Natta, Mark L et al. (2014) The prevalence and incidence of epiretinal membranes in eyes with inactive extramacular CMV retinitis. Invest Ophthalmol Vis Sci 55:4304-12

Tumova, Eva; Sun, Wensheng; Jones, Peter H et al. (2013) The impact of rapid weight loss on oxidative stress markers and the expression of the metabolic syndrome in obese individuals. J Obes 2013:729515

Jabs, Douglas A; Ahuja, Alka; Van Natta, Mark et al. (2013) Comparison of treatment regimens for cytomegalovirus retinitis in patients with AIDS in the era of highly active antiretroviral therapy. Ophthalmology 120:1262-70

Gangaputra, Sapna; Drye, Lea; Vaidya, Vijay et al. (2013) Non-cytomegalovirus ocular opportunistic infections in patients with acquired immunodeficiency syndrome. Am J Ophthalmol 155:206-212.e5

Kempen, John H; Sugar, Elizabeth A; Lyon, Alice T et al. (2012) Risk of cataract in persons with cytomegalovirus retinitis and the acquired immune deficiency syndrome. Ophthalmology 119:2343-50

Gangaputra, Sapna; Kalyani, Partho S; Fawzi, Amani A et al. (2012) Retinal vessel caliber among people with acquired immunodeficiency syndrome: relationships with disease-associated factors and mortality. Am J Ophthalmol 153:434-444.e1

Kalyani, Partho S; Fawzi, Amani A; Gangaputra, Sapna et al. (2012) Retinal vessel caliber among people with acquired immunodeficiency syndrome: relationships with visual function. Am J Ophthalmol 153:428-433.e1

Sezgin, Efe; van Natta, Mark L; Ahuja, Alka et al. (2011) Association of host genetic risk factors with the course of cytomegalovirus retinitis in patients infected with human immunodeficiency virus. Am J Ophthalmol 151:999-1006.e4

Holbrook, Janet T; Colvin, Ryan; van Natta, Mark L et al. (2011) Evaluation of the United States public health service guidelines for discontinuation of anticytomegalovirus therapy after immune recovery in patients with cytomegalovirus retinitis. Am J Ophthalmol 152:628-637.e1