PMID- 10068513
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20071115
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 66
IP  - 2
DP  - 1999 Feb
TI  - Identification and detection of the common 65-kb deletion breakpoint in the
      nephropathic cystinosis gene (CTNS).
PG  - 111-6
AB  - The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion
      thought to have originated in Germany. Although homozygotes for this deletion are
      detectable by the absence of the D17S829 polymorphic marker, no method exists to 
      identify heterozygotes. We identified the 65-kb deletion breakpoints and used
      flanking PCR primers to amplify a 423-bp fragment present only in the deletion
      alleles. Using this method, we determined that 121 of 216 (56%) cystinosis
      alleles examined bore the 65-kb deletion. We found no non-Europeans with the
      deletion, and the deletion size and breakpoints appeared identical in all
      patients studied, supporting the concept of a founder effect. The addition of
      D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful
      for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb
      deletion.
FAU - Anikster, Y
AU  - Anikster Y
AD  - Heritable Disorders Branch, National Institute of Child Health and Human
      Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
FAU - Lucero, C
AU  - Lucero C
FAU - Touchman, J W
AU  - Touchman JW
FAU - Huizing, M
AU  - Huizing M
FAU - McDowell, G
AU  - McDowell G
FAU - Shotelersuk, V
AU  - Shotelersuk V
FAU - Green, E D
AU  - Green ED
FAU - Gahl, W A
AU  - Gahl WA
LA  - eng
SI  - GENBANK/AF112441
SI  - GENBANK/AF112442
SI  - GENBANK/AH008011
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Amino Acid Transport Systems, Neutral)
RN  - 0 (CTNS protein, human)
RN  - 0 (DNA Primers)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
SB  - IM
MH  - Alleles
MH  - Amino Acid Transport Systems, Neutral
MH  - Base Sequence
MH  - Cystinosis/*genetics/pathology
MH  - DNA Primers
MH  - *Glycoproteins
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - Membrane Transport Proteins
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - *Sequence Deletion
EDAT- 1999/03/09 00:00
MHDA- 1999/03/09 00:01
CRDT- 1999/03/09 00:00
PHST- 1999/03/09 00:00 [pubmed]
PHST- 1999/03/09 00:01 [medline]
PHST- 1999/03/09 00:00 [entrez]
AID - S1096-7192(98)92790-1 [pii]
AID - 10.1006/mgme.1998.2790 [doi]
PST - ppublish
SO  - Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790.