Sex chromatin in hair roots — 25 years later: fluorescence in situ hybridization of hair root cells for detection of numerical chromosome aberrations

Lampel, Stefan; Steilen, H.; Zang, K. D.; Wullich, Bernd

doi:10.1159/000133543

Cited by 8 publications

(3 citation statements)

References 6 publications

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“…Nuclei from buccal mucosa were prepared according to Pfeiffer and Schulze (1994) except that, for hypotonic treatment, the 0.4% KCl was replaced by Otto's solution (100 ml 10 mmol TRIS-HCl, pH 7.5, 220 mg KCl, 100 mg MgCl 2 , 46 mg dithioerythritol) and incubation at 37°C was prolonged to 90 min. Hair-root cells were treated according to Lampel et al (1993) and paraffinembedded nervous tissue as described before by Liehr et al (1995).…”

Section: Molecular Cytogeneticsmentioning

confidence: 99%

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

et al. 1996

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A female patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2, typical of the great majority of cases of Charcot-Marie-Tooth disease type 1A (CMT1A). However, analysis of DNA extracted from peripheral blood revealed a 2:2.4 instead of the usual 2:3 ratio between the 7.8- and 6.0-kb EcoRI fragments in the proximal and distal repetitive extragenic palindromic (REP) elements of CMT1A. Detection of a 3.2-kb EcoRI/SacI kb junction fragment with probe pLR7.8 confirmed the CMT1A duplication. The dosage of this junction fragment, compared with a 2.8-kb EcoRI/SacI fragment of the proximal REP elements of CMT1A, was 2:0.58 instead of the expected 2:1 dosage for heterozygous CMT1A duplications. We hypothesized that the lower dosages of these restriction fragments specific for the CMT1A duplication were due to mosaicism; this was confirmed by fluorescence in situ hybridization analysis with the D17S122-specific probe pVAW409R1. In peripheral blood lymphocytes the percentage of interphase nuclei with a duplication in 17p11.2 was 49%. In interphase nuclei extracted from buccal mucosa, hair-root cells or paraffin-embedded nervous tissue the duplication was detectable in 51%, 66% and 74%, respectively. This is the first report of mosaicism in a patient with a CMT1A duplication identified by three different and independent techniques.

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Section: Molecular Cytogeneticsmentioning

confidence: 99%

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

et al. 1996

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“…Our study was approved by the local ethics committee. The hair root cell slides were prepared using a modifi ed protocol described by Lampel et al (1993). The individuals were assigned to one of three age groups: 6 -12, 13 -40, 41 -75 years old.…”

Section: Methodsmentioning

confidence: 99%

Argyrophilic nucleolar organizing region associated protein synthesis in hair root cells of humans at different developmental stages and sex

Eröz

Yılmaz

Cücer

2013

Biotechnic & Histochemistry

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Argyrophilic nucleolar organizing region (AgNORs) associated proteins are important for cell proliferation and various diseases. We investigated AgNOR protein synthesis in hair root cells of males and females at different ages using two-dimensional image analysis. Experiments were performed on 58 healthy male and 24 healthy female volunteers in three groups according to age and sex. Hair root cells obtained from hair follicles were stained with silver. Total AgNOR number/total nuclear number (TAN/TNN) and total AgNOR area/nuclear area (TAA/NA) for each nucleus were analyzed. The only significant difference was observed in TAA/NA values for males and females from 6 to 12 years old. We suggest that the difference is due to high NOR activity caused by increased growth hormone production in hair root cells.

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“…The study was approved by the local Ethics Committee. The hair root cells were obtained from normal and deficient sites on the head by pulling hair out using a modifi cation of the protocol of Lampel et al (1993). Five hair follicles were obtained from each site on each head.…”

Section: Methodsmentioning

confidence: 99%

Is there any relationship between decreased AgNOR protein synthesis and human hair loss?

Eröz

Taşdemir

Doğan

2012

Biotechnic & Histochemistry

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Argyrophilic nucleolar organizing region associated proteins (AgNORs) play roles in cell proliferation and a variety of diseases. We attempted to determine whether decreased NOR protein synthesis causes human hair loss. We studied 21 healthy males who suffered hair loss on the frontal/vertex portion of the head. Hair root cells from normal and hair loss sites were stained for AgNOR. One hundred nuclei per site were evaluated and the AgNOR number and NORa/TNa proportions of individual cells were determined using a computer program. The cells from normal sites had significantly higher AgNOR counts than those from hair loss sites. Also, the cells from the normal sites had significantly higher NORa/TNa than cells from the hair loss sites. In the normal sites, the cells demonstrated more NOR protein synthesis than cells in hair loss sites. Therefore, decreased NOR protein synthesis appears to be related to hair loss in humans.

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Sex chromatin in hair roots — 25 years later: fluorescence in situ hybridization of hair root cells for detection of numerical chromosome aberrations

Cited by 8 publications

References 6 publications

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

Argyrophilic nucleolar organizing region associated protein synthesis in hair root cells of humans at different developmental stages and sex

Is there any relationship between decreased AgNOR protein synthesis and human hair loss?

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