# CYTOGENETIC AND MOLECULAR STUDIES OF HUMAN CHROMOSOME 22

> **NIH NIH R01** · CHILDREN'S HOSP OF PHILADELPHIA · 1988 · $136,190

## Abstract

A number of clinically significant human diseases are associated with
translocations of chromosome 22 at q11, suggesting specificity of this site
in chromosomal rearrangement.  The disorders include:  Supernumerary
der(22), t(11;22) syndrome, DiGeorge syndrome, the Phl chromosome of
chronic myelogenous leukemia (CML), t(8;22) of Burkitt's lymphoma, 5(11;22)
of Ewing's sarcoma, and cat-eye syndrome.  We plan to:

1)\assign a linear sequence of breakpoints to the derivative 22 chromosome
of these disorders by comparative mapping studies using high resolution
cytogenetics and in situ hybridization of chromosome 22 specific DNA probes;

2)\examine the constancy of the 22q11 breakpoint for the 11;22
translocation in different families, and of the 9;22 rearrangement for
different individuals with Phl-positive CML, using restriction enzymes and
Southern blot analysis of genomic DNA coupled with in situ hybridization of
DNA probes;

3)\study the organization of chromosome 22 with regard to a specific gene
cluster by examining the role of the immunoglobulin lambda chain genes in
these specific rearrangements;

4)\clone and examine the DNA sequences adjacent to the breakpoints at 11q23
and 22q11 and compare the constitutional 11;22 translocation with the 11;22
of Ewing's sarcoma, as well as to other 22q11 rearrangements; and

5)\select a single copy DNA sequence from the chromosome 22 library that
maps proximal to C-lambda and in 22q11.1; identify the origin of the
cat-eye chromosome by hybridization of this probe in situ; determine the
copy number of this sequence in chromosomal and nonchromosomal DiGeorge
syndrome patients by in situ hybridization or quantitative Southern blot
analysis.

The application of this combined molecular and high resolution cytogenetic
approach to chromosome 22 is to gain insight into the relationship between
chromosome structure, molecular organization and developmental disorder and
will ultimately lead to a better understanding of the molecular basis of
chromosomal rearrangement and disease.  (6)

## Key facts

- **NIH application ID:** 3179291
- **Project number:** 5R01CA039926-04
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **SAM.gov UEI:** G7MQPLSUX1L4
- **Principal Investigator:** BEVERLY S EMANUEL
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1988
- **Award amount:** $136,190
- **Award type:** 5
- **Project period:** 1985-01-01 → 1989-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3179291

## Citation

> US National Institutes of Health, RePORTER application 3179291, CYTOGENETIC AND MOLECULAR STUDIES OF HUMAN CHROMOSOME 22 (5R01CA039926-04). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3179291. Licensed CC0.

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