HUM-MOLGEN archive: DIAG (5 messages, 1 Pt. Request)

The following messages have been submitted to the DIAG section of HUM-MOLGEN. Replies should be made directly to the originator of each message, unless the message is a Patient Request in which case replies should be made to HUM-MOLGEN. DIAG messages can also be found at our website (http://www.informatik.uni-rostock.de/HUM-MOLGEN/). Summary of Messages: 1) Type 2 Diabetes Gene Mapping Consortium 2) Autosomal Recessive Congenital Alopecia 3) Keloids 4) Chromosomal Translocation 5) Acrocentric Marker Chromosome (PATIENT REQUEST) -------------------------------------------------------------------------- 1) From: "Wagner, Michael" <mw29911@GLAXOWELLCOME.COM> Subject: Call for collaboration A consortium of groups mapping genes for type 2 diabetes is being formed to carry out a joint analysis of their linkage data. Because of a number of interesting findings both published and not yet published, the Consortium initially will focus on chromosome 20. Participating groups will provide relevant phenotype information, and genotype information on a framework map of chromosome 20 markers and on other chromosome 20 marker they may already have typed. Interested individuals should contact Michael Boehnke, Steering Committee Chair for the Type 2 Diabetes Linkage Analysis Consortium, at boehnke@umich.edu (e-mail), 313-936-1001 (phone), or 313-763-2215 (fax). Each institution seeking participation should obtain their own IRB (or equivalent) approval. __________________________________________________________________________ 2) Subject: Disorders of Hair Development From: "Dr. Markus Noethen" <noethen@SNPHYSIO2.WILHELM.UNI-BONN.DE> Organization: Physiologie 2 Uni-Bonn We are studying the molecular genetics of disorders of hair development. We have recently mapped the gene for autosomal-recessive universal congenital alopecia in a large Pakistanian pedigree (Nothen et al., Am J Hum Genet, in press). We have now initiated a positional cloning project to identify the causative disease gene. We are actively searching for additional patients and their families to perform linkage studies and mutation screening of candidate genes. In addition, we are interested to perform linkage studies in other disorders of hair development such as autosomal-dominant alopecia or hypotrichia. We would greatly appreciate your collaboration or any information and help you could give us. Please contact us by telephone (+49) 228 287 2345, fax (+49) 228 287 2601 or e-mail kruse@humgen.uni-bonn.de Sincerely yours, Dr. Roland Kruse, Dr. Markus M. Nothen Institute of Human Genetics University of Bonn Wilhelmstr. 31 53111 Bonn, Germany Dr. Markus M. Nothen Institute of Human Genetics University of Bonn Wilhelmstr. 31 53111 Bonn, Germany Tel.: +49 228 2872286 Fax: +49 228 2872380 Email: noethen@humgen.uni-bonn.de email: noethen@humgen.uni-bonn.de -------------------------------------------------------------------------- 3) Reply-To: Ernst Reichenberger <ernstrei@warren.med.harvard.edu> Subject: KELOIDS Dear Colleagues, We are currently working on the positional cloning of genes responsible for heritable keloid formation. For our linkage analysis studies we are looking for additional families affected with true keloids. I would greatly appreciate your collaboration if yo u can contribute such a family or if you have patients with familial keloids or know of somebody who has. This study has IRB approval. Ernst Reichenberger, Ph.D. Harvard Medical School Department of Cell Biology 240 Longwood Ave. Boston MA 02115 Tel. (617) 432-1762 FAX (617) 432-0638 ernstrei@warren.med.harvard.edu ---------------------------------------------------------------------------- 4) From: Laura Bianciardi <Bianciardi@UNISI.IT> Subject: Chromosomal Translocations (4q;6q) Dear Sirs, have you any information about balanced translocation q4-q6 in pregnancy or in prenatal diagnosis or in children? [Editorial Note: This is presumably a t(4q;6q) translocation; no more specific information on breakpoints}. Please, send information to Prof. Giovanni Centini, Gynecologist at the Institute of Gynecology and Obstetrics of the University of Siena, Italy, e-mail: Centini@unisi.it. Thanks for the attention. -------------------------------------------------------------------------- Subject: Acrocentric Marker Chromosome (PATIENT REQUEST) From: PATIENT REQUEST - Reply Directly to HUM-MOLGEN Patient Location: IRELAND Reply-To: HUM-MOLGEN 5) A friend of mine, a Public Health Nurse, has a 1 year old child who has a karyotype showing a small acrocentric marker chromosome of unknown origin, possibly originating from chromosome 13. She has being trying to get some more information on this topic. 1. from her professional view point and 2. from a parents point of view. If you were able to point me in the right direction for some books, information or even a web site that would help to enlighten us on this topic. Thank you.