X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male

J. C. Mulley, A. M. Turner, A. K. Gedeon, V. A. Berdoukas, T. H.M. Huang, D. H. Ledbetter, H. Grierson, D. T. Purtilo

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Chorionic Villous Biopsy (CVS) for diagnosis of XLP was undertaken at 10 weeks gestation in an obligate carrier. The fetus was found to be male by cytogenetic analysis. XLP (Xq25–q26) is closely linked to the RFLP markers DXS10, DXS37 and DXS42, but only DXS10 (distal to XLP) was informative for prenatal diagnosis in this family. RFLP analysis using this marker gave a 7% risk that the fetus was affected, based on the known recombination frequency between DXS10 and XLP. Further investigation was then undertaken to obtain a rapid and more accurate diagnosis using the three highly polymorphic PCR based markers. These were the AC repeat markers DXS424 (XL5A) and DXS425 (XL90A3) and the tetramer repeat marker within HPRT. DX425 is approximately 10 cM proximal to DXS10 and HPRT but is not known with certainty to map proximal or distal to XLP. DXS424 is proximal to DXS10 and HPRT and was inferred to be proximal to XLP on the basis of map distance from HPRT estimated by linkage analysis of data from CEPH pedigrees. This was confirmed by a recombinant in the XLP family between DXS424 and DXS425, placing DXS424 proximal to XLP. Diagnosis by linkage using DXS424 and DXS425, at least one of which is proximal to XLP, and distal markers DXS10 and HPRT, increased the accuracy of diagnosis using flanking marker analysis to greater than 99% that the fetus was unaffected. HLA DR typing of the CVS showed that the fetus was DR identical to a male sibling with XLP. HLA compatibility was confirmed at delivery by full HLA typing and MLC. Transplantation has been carried out utilising cord and placental blood.

Original languageEnglish
Pages (from-to)76-79
Number of pages4
JournalClinical Genetics
Volume42
Issue number2
DOIs
Publication statusPublished - 1 Jan 1992
Externally publishedYes

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Hypoxanthine Phosphoribosyltransferase
Fetus
Histocompatibility Testing
Restriction Fragment Length Polymorphisms
Biopsy
Information Storage and Retrieval
Cytogenetic Analysis
HLA-DR Antigens
Pedigree
Prenatal Diagnosis
Fetal Blood
Genetic Recombination
Transplantation
Pregnancy
Polymerase Chain Reaction

Cite this

Mulley, J. C., Turner, A. M., Gedeon, A. K., Berdoukas, V. A., Huang, T. H. M., Ledbetter, D. H., ... Purtilo, D. T. (1992). X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male. Clinical Genetics, 42(2), 76-79. https://doi.org/10.1111/j.1399-0004.1992.tb03143.x
Mulley, J. C. ; Turner, A. M. ; Gedeon, A. K. ; Berdoukas, V. A. ; Huang, T. H.M. ; Ledbetter, D. H. ; Grierson, H. ; Purtilo, D. T. / X‐linked lymphoproliferative disease : prenatal detection of an unaffected histocompatible male. In: Clinical Genetics. 1992 ; Vol. 42, No. 2. pp. 76-79.
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abstract = "Chorionic Villous Biopsy (CVS) for diagnosis of XLP was undertaken at 10 weeks gestation in an obligate carrier. The fetus was found to be male by cytogenetic analysis. XLP (Xq25–q26) is closely linked to the RFLP markers DXS10, DXS37 and DXS42, but only DXS10 (distal to XLP) was informative for prenatal diagnosis in this family. RFLP analysis using this marker gave a 7{\%} risk that the fetus was affected, based on the known recombination frequency between DXS10 and XLP. Further investigation was then undertaken to obtain a rapid and more accurate diagnosis using the three highly polymorphic PCR based markers. These were the AC repeat markers DXS424 (XL5A) and DXS425 (XL90A3) and the tetramer repeat marker within HPRT. DX425 is approximately 10 cM proximal to DXS10 and HPRT but is not known with certainty to map proximal or distal to XLP. DXS424 is proximal to DXS10 and HPRT and was inferred to be proximal to XLP on the basis of map distance from HPRT estimated by linkage analysis of data from CEPH pedigrees. This was confirmed by a recombinant in the XLP family between DXS424 and DXS425, placing DXS424 proximal to XLP. Diagnosis by linkage using DXS424 and DXS425, at least one of which is proximal to XLP, and distal markers DXS10 and HPRT, increased the accuracy of diagnosis using flanking marker analysis to greater than 99{\%} that the fetus was unaffected. HLA DR typing of the CVS showed that the fetus was DR identical to a male sibling with XLP. HLA compatibility was confirmed at delivery by full HLA typing and MLC. Transplantation has been carried out utilising cord and placental blood.",
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Mulley, JC, Turner, AM, Gedeon, AK, Berdoukas, VA, Huang, THM, Ledbetter, DH, Grierson, H & Purtilo, DT 1992, 'X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male' Clinical Genetics, vol. 42, no. 2, pp. 76-79. https://doi.org/10.1111/j.1399-0004.1992.tb03143.x

X‐linked lymphoproliferative disease : prenatal detection of an unaffected histocompatible male. / Mulley, J. C.; Turner, A. M.; Gedeon, A. K.; Berdoukas, V. A.; Huang, T. H.M.; Ledbetter, D. H.; Grierson, H.; Purtilo, D. T.

In: Clinical Genetics, Vol. 42, No. 2, 01.01.1992, p. 76-79.

Research output: Contribution to journalArticle

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T1 - X‐linked lymphoproliferative disease

T2 - prenatal detection of an unaffected histocompatible male

AU - Mulley, J. C.

AU - Turner, A. M.

AU - Gedeon, A. K.

AU - Berdoukas, V. A.

AU - Huang, T. H.M.

AU - Ledbetter, D. H.

AU - Grierson, H.

AU - Purtilo, D. T.

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N2 - Chorionic Villous Biopsy (CVS) for diagnosis of XLP was undertaken at 10 weeks gestation in an obligate carrier. The fetus was found to be male by cytogenetic analysis. XLP (Xq25–q26) is closely linked to the RFLP markers DXS10, DXS37 and DXS42, but only DXS10 (distal to XLP) was informative for prenatal diagnosis in this family. RFLP analysis using this marker gave a 7% risk that the fetus was affected, based on the known recombination frequency between DXS10 and XLP. Further investigation was then undertaken to obtain a rapid and more accurate diagnosis using the three highly polymorphic PCR based markers. These were the AC repeat markers DXS424 (XL5A) and DXS425 (XL90A3) and the tetramer repeat marker within HPRT. DX425 is approximately 10 cM proximal to DXS10 and HPRT but is not known with certainty to map proximal or distal to XLP. DXS424 is proximal to DXS10 and HPRT and was inferred to be proximal to XLP on the basis of map distance from HPRT estimated by linkage analysis of data from CEPH pedigrees. This was confirmed by a recombinant in the XLP family between DXS424 and DXS425, placing DXS424 proximal to XLP. Diagnosis by linkage using DXS424 and DXS425, at least one of which is proximal to XLP, and distal markers DXS10 and HPRT, increased the accuracy of diagnosis using flanking marker analysis to greater than 99% that the fetus was unaffected. HLA DR typing of the CVS showed that the fetus was DR identical to a male sibling with XLP. HLA compatibility was confirmed at delivery by full HLA typing and MLC. Transplantation has been carried out utilising cord and placental blood.

AB - Chorionic Villous Biopsy (CVS) for diagnosis of XLP was undertaken at 10 weeks gestation in an obligate carrier. The fetus was found to be male by cytogenetic analysis. XLP (Xq25–q26) is closely linked to the RFLP markers DXS10, DXS37 and DXS42, but only DXS10 (distal to XLP) was informative for prenatal diagnosis in this family. RFLP analysis using this marker gave a 7% risk that the fetus was affected, based on the known recombination frequency between DXS10 and XLP. Further investigation was then undertaken to obtain a rapid and more accurate diagnosis using the three highly polymorphic PCR based markers. These were the AC repeat markers DXS424 (XL5A) and DXS425 (XL90A3) and the tetramer repeat marker within HPRT. DX425 is approximately 10 cM proximal to DXS10 and HPRT but is not known with certainty to map proximal or distal to XLP. DXS424 is proximal to DXS10 and HPRT and was inferred to be proximal to XLP on the basis of map distance from HPRT estimated by linkage analysis of data from CEPH pedigrees. This was confirmed by a recombinant in the XLP family between DXS424 and DXS425, placing DXS424 proximal to XLP. Diagnosis by linkage using DXS424 and DXS425, at least one of which is proximal to XLP, and distal markers DXS10 and HPRT, increased the accuracy of diagnosis using flanking marker analysis to greater than 99% that the fetus was unaffected. HLA DR typing of the CVS showed that the fetus was DR identical to a male sibling with XLP. HLA compatibility was confirmed at delivery by full HLA typing and MLC. Transplantation has been carried out utilising cord and placental blood.

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KW - hypogammaglobulinaemia

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