Other

Vanderbilt University

John A Phillips, Iii

Elliott P Dawson

James Loyd

Kirk B Lane

William C Nichols

Jennifer R Thomson

Michael W Pauciulo

Rajiv D Machado

Susan G McGrew

Richard C Trembath

Tatiana Foroud

This invention relates generally to a method of identifying an individual having an increased susceptibility to developing Familial Primary Pulmonary Hypertension (FPPH), as well as to a method for diagnosing an individual suffering from FPPH. The invention also relates to a method of identifying an individual having an increased susceptibility to developing (non-familial) Primary Pulmonary Hypertension (PPH), as well as to a method for diagnosing an individual suffering from PPH.

Method of diagnosing pulmonary hypertension

A method of treating autism in a patient. The method includes administering to the patient an effective amount of a glutamine level reducing agent, a glycine level reducing agent or combinations thereof. Representative glutamine level reducing agents are phenylbutyrate and phenylacetate, and a representative glycine level reducing agent is sodium benzoate. Optionally, an N-methyl-D-aspartate receptor antagonist can also be administered to the patient. A representative N-methyl-D-aspartate receptor antagonist is dextromethorphan.

Modulation of in vivo glutamine and glycine levels in the treatment of autism

A method of determining the presence and identity of a variation in a nucleotide sequence between a first polynucleotide and a second polynucleotide comprising, first, providing a sample of the first polynucleotide and selecting a region of the first polynucleotide potentially containing the variation. Then, the selected region is subjected to a template producing amplification reaction to produce a plurality of double stranded polynucleotide templates which include the selected region. Next, a family of labeled, linear polynucleotide fragments is produced from both strands of the template simultaneously by a fragment producing reaction using a set of primers. Then, the location and identity of at least some of the bases in the selected region of the first polynucleotide is determined using the labels present in the fragments. Next, the location and identity of the bases determined is compared with the location and identity of bases from a second polynucleotide, thereby identifying the presence and identity of a variation in a nucleotide sequence between the selected region of the first polynucleotide and a corresponding region of the second polynucleotide.

Method for determining polynucleotide sequence variations

Growing community of inventors

Brentwood, TN, United States of America

John A Phillips, Iii