PMID- 8449034
OWN - NLM
STAT- MEDLINE
DCOM- 19930413
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 63
IP  - 1
DP  - 1993
TI  - In situ hybridization applied to Waardenburg syndrome.
PG  - 29-32
AB  - Multilocus linkage analysis has suggested that the Waardenburg syndrome type 1 
      (WS1) locus is flanked by placental alkaline phosphatase (ALPP) and fibronectin 1 
      (FN1). We used fluorescence in situ hybridization (FISH) to map ALPI (intestinal 
      alkaline phosphatase) to 2q36.3-q37.1 and FN1 to 2q34. FISH also showed that a 
      WS1 patient with a de novo interstitial deletion of 2q35-q36.1 retained both API 
      and FN1 on the deleted chromosome. The human PAX3 gene has been shown previously 
      to be mutated in at least two WS1 patients. We mapped a PCR product from the PAX3 
      gene to 2q35 and found it was absent in the deleted chromosome. Thus, our FISH 
      mapping results confirm the conclusions from previous linkage analysis and 
      support the conclusion that mutation of the PAX3 gene can cause Waardenburg 
      syndrome.
FAU - Wu, B L
AU  - Wu BL
AD  - Center for Human Genetics, Boston University School of Medicine, MA.
FAU - Milunsky, A
AU  - Milunsky A
FAU - Wyandt, H
AU  - Wyandt H
FAU - Hoth, C
AU  - Hoth C
FAU - Baldwin, C
AU  - Baldwin C
FAU - Skare, J
AU  - Skare J
LA  - eng
GR  - CA 46929/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.3.1 (Alkaline Phosphatase)
SB  - IM
GS  - ALPI
GS  - ALPP
GS  - FN1
GS  - HuP2
GS  - PAX3
GS  - WS1
MH  - Alkaline Phosphatase/genetics
MH  - Base Sequence
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 2
MH  - DNA/analysis
MH  - Genetic Linkage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intestines/enzymology
MH  - Male
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - Waardenburg Syndrome/*genetics
EDAT- 1993/01/01 00:00
MHDA- 1993/01/01 00:01
CRDT- 1993/01/01 00:00
PHST- 1993/01/01 00:00 [pubmed]
PHST- 1993/01/01 00:01 [medline]
PHST- 1993/01/01 00:00 [entrez]
AID - 10.1159/000133495 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1993;63(1):29-32. doi: 10.1159/000133495.