PMID- 10759956
OWN - NLM
STAT- MEDLINE
DCOM- 20000531
LR  - 20190722
IS  - 0011-9059 (Print)
IS  - 0011-9059 (Linking)
VI  - 39
IP  - 3
DP  - 2000 Mar
TI  - Deletion patterns of the STS gene and flanking sequences in Israeli X-linked 
      ichthyosis patients and carriers: analysis by polymerase chain reaction and 
      fluorescence in situ hybridization techniques.
PG  - 182-7
AB  - BACKGROUND: Deletion of the entire steroid sulfatase (STS) gene is the most 
      common molecular defect in X-linked ichthyosis (XLI) patients. Usually, 
      additional flanking sequences are also missing. The aim of this study was to 
      estimate the extent of deletions in an ethnically heterogeneous population of 
      Israeli XLI patients. METHODS: Multiplex polymerase chain reaction (PCR) and 
      fluorescence in situ hybridization (FISH) techniques were applied in the analysis 
      of blood samples of 24 patients and amniotic cells of seven affected fetuses from 
      22 unrelated families. RESULTS: In 19 families, a large deletion of the 2-3 
      megabase was found. It included the whole STS gene and spanned adjacent areas up- 
      and downstream between the loci DXS 1139 and DXS 1132. Two unrelated families of 
      Iraqi ancestry had a partial deletion of the gene and its centromeric adjacent 
      sequence. In another family, the telomeric end of the extragenic segment was only 
      partially missing. Application of FISH on metaphase blood cells and interphase 
      amniotic cells confirmed the diagnosis of XLI in all patients, except the three 
      with partial intragenic deletion. In those cases, the remaining fraction of the 
      gene was sufficient to provide a false negative result. Diagnosis of carriers and 
      prenatal diagnosis in uncultured cells was applicable only by FISH. CONCLUSIONS: 
      Our study revealed a remarkable heterogeneity in the deletion pattern among 
      Israeli patients with XLI. This heterogeneity could not be attributed to specific 
      ethnic groups because of the small size of the study group. More studies 
      involving patients of various ancestries should be carried out. In addition, this 
      study demonstrated the usefulness of the FISH technique in the prenatal diagnosis 
      of fetuses with suspected XLI.
FAU - Aviram-Goldring, A
AU  - Aviram-Goldring A
AD  - Genetic Institute, Sheba Medical Center, Tel-Hashomer, Israel.
FAU - Goldman, B
AU  - Goldman B
FAU - Netanelov-Shapira, I
AU  - Netanelov-Shapira I
FAU - Chen-Shtoyerman, R
AU  - Chen-Shtoyerman R
FAU - Zvulunov, A
AU  - Zvulunov A
FAU - Tal, O
AU  - Tal O
FAU - Ilan, T
AU  - Ilan T
FAU - Peleg, L
AU  - Peleg L
LA  - eng
PT  - Journal Article
PL  - England
TA  - Int J Dermatol
JT  - International journal of dermatology
JID - 0243704
RN  - EC 3.1.6.1 (Arylsulfatases)
RN  - EC 3.1.6.2 (Steryl-Sulfatase)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Arylsulfatases/deficiency/*genetics/metabolism
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Fetus/metabolism
MH  - *Heterozygote
MH  - Humans
MH  - Ichthyosis, X-Linked/enzymology/ethnology/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Israel
MH  - Male
MH  - Microsatellite Repeats
MH  - Polymerase Chain Reaction
MH  - Sequence Deletion
MH  - Steryl-Sulfatase
MH  - X Chromosome/genetics
EDAT- 2000/04/12 09:00
MHDA- 2000/06/03 09:00
CRDT- 2000/04/12 09:00
PHST- 2000/04/12 09:00 [pubmed]
PHST- 2000/06/03 09:00 [medline]
PHST- 2000/04/12 09:00 [entrez]
AID - ijd915 [pii]
AID - 10.1046/j.1365-4362.2000.00915.x [doi]
PST - ppublish
SO  - Int J Dermatol. 2000 Mar;39(3):182-7. doi: 10.1046/j.1365-4362.2000.00915.x.