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Fetal Diagn Ther. 2002 Mar-Apr;17(2):115-9.

Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations.

Author information

1
Fundacion GENOS, Buenos Aires, Argentina.

Abstract

OBJECTIVE:

Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations.

METHODS:

Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of sequencing results with PCR and NcoI digestion.

RESULTS:

A 1-bp deletion was found in exon 2 of L1CAM in all affected males and obligate carriers in the pedigree. Prenatal detection is now possible for subsequent pregnancies.

CONCLUSION:

In a large gene with widespread mutations such as L1CAM, a mutation must be detected in another family member before direct prenatal mutation testing can be done within the required timeframe. If the proper family members are available, haplotyping offers a fast but indirect test with several limitations.

PMID:
11844917
DOI:
10.1159/000048020
[Indexed for MEDLINE]

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