Chromosomal Linkage Associated with Disease Severity in the Hydrocephalic H-Tx Rat

Jones, Hazel C.; Carter, Barbara J.; Depelteau, Jamie S.; Roman, Michelle; Morel, Laurence
January 2001
Behavior Genetics;Jan2001, Vol. 31 Issue 1, p101
Academic Journal
Infantile hydrocephalus results in neurological deficits despite surgical treatment. Fetal-onset hydrocephalus in humans can be caused by developmental abnormalities that are genetic in origin. The H-Tx rat has hydrocephalus with 40% penetrance and a polygenic inheritance. A backcross with Fisher F344 inbred strain produced a total of 1500 progeny with 17.5% hydrocephalus. Of these, only 12.3% had overt disease and the remaining 5.2% had mild disease seen only after fixation of the brain. Disease severity was measured for all affected rats using the ratio of ventricle to brain width. The severity measure confirmed that there are two populations, mild hydrocephalus (M; ratio, <0.4) and severe hydrocephalus (S; ratio, >0.4), with a small overlap. For genotyping, the two populations were each subdivided based on the ratio measure to give a total of four groups of increasing severity. After an initial genome scan with microsatellite markers, all hydrocephalic rats and a subset of 128 normal progeny were genotyped on chromosomes 4, 9, 10, 11, 17 and 19. Rats in the mildest group had association with a locus on chromosome 4 (LOD 2.4), whereas those in the severest group were associated with a locus on chromosome 17 (LOD 3.2). All except the least affected group were associated with a heterozygous genotype on chromosomes 10 and 11 (LOD 4.5 and 3.5, respectively). Chromosomes 9 and 19 had weak linkage to hydrocephalus. The number of hydrocephalus-associated loci carried by each rat correlated with the severity of disease. It is concluded that the severity of hydrocephalus in H-Tx is influenced by different genetic loci.


Related Articles

  • Descriptive Epidemiology of Congenital Hydrocephaly in Hawaii, 1986-2000. Forrester, Mathias B.; Merz, Ruth D. // Hawaii Medical Journal;Feb2005, Vol. 64 Issue 2, p38 

    Using data from a birth defects registry, this study examined the epidemiology of hydrocephaly in Hawaii during 1986-2000. There were 294 cases of hydrocephaly, resulting in a rate of 10.4 per 10,000 live births. The hydrocephaly rate was lower with increased maternal age and female sex and...

  • Neuroendoscopic Third Ventriculostomy in Patients Less than 1 Year Old. Buxton, N.; Macarthur, D.; Mallucci, C.; Punt, J.; Vloeberghs, M. // Pediatric Neurosurgery;Aug98, Vol. 29 Issue 2, p73 

    A series of neuroendoscopic third ventriculostomies in children less than 1 year old is reported. Twenty-seven patients underwent the procedure with 21 (77%) failing within a mean of 1.36 months of the procedure. Nineteen were subsequently shunted. The presence or absence of flow through the...

  • Death in shunted hydrocephalic children: a follow-up study. Acakpo-Satchivi, Leslie; Shannon, Chevis N.; Tubbs, R. Shane; Wellons III, John C.; Blount, Jeffrey P.; Iskandar, Bermans J.; Oakes, W. Jerry // Child's Nervous System;Feb2008, Vol. 24 Issue 2, p197 

    Introduction The authors previously conducted a retrospective study regarding deaths from CSF shunt failure to identify circumstances surrounding shunt malfunction-related deaths in children in the modern era. Materials and methods Using the same methodology, we conducted a follow-up study to...

  • External hydrocephalus in a set of triplets. Camerota, Anthony J.; Rash, F.C. // Clinical Pediatrics;Apr1994, Vol. 33 Issue 4, p255 

    Describes a case of external hydrocephalus in a set of triplets. Subject characteristics. Cranial ultrasound; Increase of fluids in the hemispheres; Study recommendations.

  • Importance of neurosurgical consultation after ultrasonic diagnosis of fetal hydrocephalus. Murphy, Stephen; Das, Prasanta; Grant, D. Norman; Hayward, Richard // British Medical Journal (Clinical Research Edition);11/3/1984, Vol. 289 Issue 6453, p1212 

    Reports the importance of neurosurgical consultation following ultrasonic diagnosis of fetal hydrocephalus. Use of ultrasound examination of the fetus as part of prenatal care; Reference to the case of four infants; List of dangers that can arise in the management of infants in whom fetal...

  • Adventures with surgery. Black, Odessa // Exceptional Parent;Sep96, Vol. 26 Issue 9, p108 

    Describes a child's experience of undergoing two shunt surgeries for hydrocephalus. Feelings on going home after the first surgery; Improvement in condition after the second surgery.

  • Survival of infants with unoperated myeloceles. Robards, M.F.; Thomas, G.G.; Rosenbloom, L. // British Medical Journal;10/4/1975, Vol. 4 Issue 5987, p12 

    Examines the survival of patients with myeloceles. Survival of infants with spina bifida and denied closure of myelocele; Decisions in the management of the condition; Indications for treating hydrocephalus rather than the pros and cons of myelocele closure.

  • Acute hydrocephalus masquerading as catch-up head growth in an infant with cystic fibrosis. Campellone, Joseph V.; Nachajon, Roberto // Clinical Pediatrics;Aug1995, Vol. 34 Issue 8, p436 

    Discusses acute hydrocephalus masquerading as catch-up head growth in an infant with cystic fibrosis. Signs of increased intracranial pressure; Attribution of the etiology to a pseudotumor effect; Description of an infant with cystic fibrosis who developed a bulging fontanelle, papilledema and...

  • Long-term outcome in childhood hydrocephalus: a comparison of child and parental perceptions of health outcome. Kulkarni, Abhaya V.; Shams, Iffat // Cerebrospinal Fluid Research;2006 Supplement 1, Vol. 3, pS34 

    An abstract of the research "Long-term outcome in childhood hydrocephalus: a comparison of child and parental perceptions of health outcome" is presented.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics